Personale

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Amelia MORRONE

Ruolo attuale:: Professore Associato
SSD:: MEDS-20/A - Pediatria generale e specialistica
Afferenza organizzativa:: Dipartimento di Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)

Recapiti

	0555662543
	amelia.morrone(AT)unifi.it

Amelia MORRONE

Orario di ricevimento (aggiornato al 18/07/2024)

L'orario di ricevimento è, di norma, ogni venerdì ore 9-11, secondo piano padiglione universitario, AOU Meyer, Viale Pieraccini 24. Si raccomanda di inviare una email per verificare la disponibilità del docente nei giorni immediatamente precedenti utilizzando esclusivamente l'email ufficiale @stud.unifi.it e scrivendo all'indirizzo: amelia.morronei@unifi.it

Amelia MORRONE

Biografia

Amelia Morrone si è laureata in Scienze Biologiche nel 1987 presso l’Università di Firenze, dove ha ottenuto il suo dottorato in Scienze Neurometaboliche e dove si è specializzata in Genetica Medica nel 1997 ed in Biochimica Clinica nel 2001. E’ stata visiting fellow presso il Dept. of Cell Biology and Genetics, Erasmus University-Rotterdam (laboratorio dott.ssa Sandra D'Azzo) dal 1991 al 1993 e presso il Dept. of Molecular Genetics and Biochemistry, Pittsburgh University (laboratorio dott. Eric P Hoffman) dal 1993 al 1995. Dal 2001 è ricercatrice di ruolo in Pediatria Generale Specialistica presso l’Università di Firenze e nel 2014 ha ricevuto l’abilitazione a Professore di II fascia in Genetica Medica; Pediatria Generale, Specialistica e Neuropsichiatria Infantile; eBiochimica Generale e Biochimica Clinica presso lo stesso Ateneo.

È stata anche PI in diversi programmi di ricerca sulla genetica delle malattie neuromuscolari, disturbi del ciclo dell'urea, organico acidurie e disturbi degli aminoacidi.

Collabora con diversi Centri Nazionali e Internazionali su progetti di ricerca nel campo degli errori congeniti del metabolismo, inclusi le LSD.

È membro del gruppo di lavoro europeo sulle malattie lisosomiali (ESGLD), della Società per lo Studio degli Errori Congeniti del Metabolismo (SSIEM), della Società Italiana di Genetica Umana e della Società Italiana per lo Studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale.

Prof. Morrone è autrice o co-autrice di numerosi articoli scientifici e di capitoli di libri nel campo delle malattie metaboliche.

Amelia MORRONE

Curriculum

Istruzione e formazione

1987: Laurea in Scienze Biologiche, Università di Firenze

1987-1988 Programma di formazione in chimica, cliniche e microbiologiche

1988-1989 Corso di perfezionamento: "Metodi biologici per laboratori di ricerca "Università La Sapienza, Roma.

1994 Dottore di Ricerca in Scienze Neurometaboliche

1995- 1997 Post-dottorato in Scienze Neurometaboliche, Università degli Studi di Firenze.

1997 Specializzazione in Genetica Medica, Università degli Studi di Firenze.

2001 Specializzazione in Biochimica Clinica, Università degli Studi di Firenze.

Esperienza lavorativa:

1987/1997 Firenze, Dipartimento di Pediatria: ricerca e diagnosi delle Malattie Metaboliche 1991-1993 Dipartimento di Biologia Cellulare e Genetica, Università Erasmus di Rotterdam Laboratorio della Prof.ssa Sandra D'Azzo; Rotterdam, The Netherland

1993-1995 Dipartimento di Genetica Molecolare e Biochimica, Università di Pittsburgh, Laboratorio del Prof. Eric P Hoffman; Pittsburg, USA

Impiego e Ricerca

1987-1988 Tirocinio di formazione in chimica, analisi cliniche e microbiologiche

1988-1989 Dipartimento di Pediatria, Università degli Studi di Firenze: assistente di ricerca volontario

1989-1990 Dottoranda presso il Dipartimento di Pediatria, Università degli Studi di Firenze.

1991- 1993 Dottoranda presso il Dipartimento di Biologia Cellulare Rotterdam (NL), Erasmus-University, Rotterdam, Netherlands

1994-1995 Pittsburgh (USA), Università di Pittsburgh, Dipartimento di Genetica Molecolare e Biochimica

1995/1997 Corso post-dottorato in Scienze Neurometaboliche presso l’Università degli Studi di

1997-2001 Tecnico Laureato/Biologo presso il Dipartimento di Pediatria, Università degli Studi di Firenze, Azienda Ospedaliero Universitaria Meyer, Firenze.

2001-2010 Ricercatore Universitario, presso il Dipartimento di Pediatria dell’Università degli Studi di Firenze e referente per la Biologia Molecolare e Cellulare della Sezione di Malattie Neurometaboliche

2010-2015 Ha lavorato come ricercatore senior / assistente professore presso l’Università degli Studi di Firenze e come responsabile del Laboratorio di Diagnostica delle Malattie del Sistema Nervoso e del Metabolismo: Biologia Molecolare e Cellulare presso la Clinica di Neurologia Pediatrica, Diretta dal Prof. Renzo Guerrini, dell’Azienda Ospedaliero Universitaria Meyer di Firenze

2015 da novembre è Professore Associato di Pediatria, Università degli Studi di Firenze, Firenze e lavora come professore associato di Pediatria presso la stessa Università e come Responsabile del Laboratorio di Biologia Molecolare delle Malattie Neurometaboliche, del Centro di Eccellenza di Neuroscienze, Azienda Ospedaliero Universitaria Meyer di Firenze

Aree di ricerca:

Biologia molecolare, biologia cellulare, caratterizzazione di geni e proteine legati a malattie metaboliche. Studi biochimico-genetico funzionale su Malattie Neurometaboliche con particolare riguardo a Malattie Lisosomiali, disturbi del Ciclo dell'Urea, Acidurie Organiche, Aminoacidopatie e riprogrammazione cellulare (iPSCs) e differenziamento neuronale

Settore principale di ricerca:

Nel corso degli ultimi 20 anni ha lavorato sullo sviluppo di un panello completo di metodi biochimici e genetici per la diagnosi dei disordini metabolici in Italia. Accanto al lavoro diagnostico, l'interesse si è concentrato su vari progetti promossi da casi clinici (ad es Malattie da Accumulo Lisosomiale, Difetti del Ciclo dell’Urea e Organico Acidurie). Sono da sottolineare, progetti e lavori relativi alla diagnosi della malattia di Fabry, alla caratterizzazione di mutazioni introniche profonde, relativi studi funzionali e lo sviluppo di approcci terapeutici. Lo studio del gene GLB1 e del suo coinvolgimento in due diverse malattie da accumulo lisosomiale, gangliosidosi GM1 e Morquio B e lo studio dei geni GALNS e GLB1 legati a Morquio A / B rispettivamente, sono stati anche un fattore costante di interesse.

Sempre nel corso degli ultimi anni sono da sottolineare gli studi sul gene TAZ coinvolto nella Malattia di Barth.

Il difetto di Cobalamina, Metilmalonico cblC, dovuto a epimutazioni mono o bi-alleliche MMACHC e la malattia epi-cblC correlata al gene PRDX1 è stato al centro della ricerca.

Nei progetti in corso, coordina le diverse unità coinvolte e supervisiona gli studi genetici, cellulari e funzionali, la riprogrammazione iPSC e differenziamento neuronale.

Coordinamento e Principal Investigator (PI) in progetti di ricerca

2023-2025 Responsabile di Unità di Ricerca nel PROGETTO DI RICERCA DI RILEVANTE INTERESSE NAZIONALE (PRIN) 20228S5LWY “Characterization of the pathophysiology of three lysosomal storage diseases (Pompe disease, Morquio disease and GM1 gangliosidosis) and identification of novel therapeutic targets”. Importo Unità di Ricerca Morrone: 102.905,00 P.I. Prof. Giancarlo Parenti Università degli Studi Napoli. Importo totale progetto: 218.162,5

2020 - 2025 Coordinatore Scientifico e Principal investigator di un finanziamento della Regione Toscana (Bando Ricerca e Salute 2018) CUP G14I18000270002, dal titolo: “Malattie da accumulo lisosomiale a esordio tardivo (LSD) nella diagnosi differenziale delle malattie neurodegenerative: sviluppo di nuove procedure diagnostiche e focus su potenziali accompagnatori farmacologici (PC), Acronimo: LysoLate. Importo totale: € 576.000

2018-2019 AMMeC (Associazione Malattie Metaboliche Ereditarie Congenite)Messa a punto e sviluppo di iPSc somatiche da biopsie di pazienti con Malattie Neuro-Metaboliche e successivi studi di genetica funzionale. Importo totale: € 49.000

2016-2018 AMMeC (Associazione Malattie Metaboliche Ereditarie Congenite)Pannello NGS personalizzato per Errori Congeniti del Metabolismo € 75.000

2014-2018 Ministero della Salute Italiano (concessione RF-2011-02347694) € 300.218 “Correzione terapeutica di trascritti di RNA mis-spliced e difetti di conformazionali proteici nelle Malattie da Accumulo Lisosomiale, (coordinatore PI)

2012-2014 Finanziamento Progetti formativi POR CRO FSE 2007-2013: 60.000 EuroErrori congeniti del metabolismo: caratterizzazione genetica biochimica e funzionale di nuove varianti e definizione del loro stato di patogenicità e possibile responsività ad approcci terapeutici di medicina personalizzata.

2011-2013 Genzyme Corporation: 31.000 Euro"Malattie da accumulo lisosomiale: genetica, studi biochimici e funzionali"

2011-2012 AMMeC (Associazione Malattie Metaboliche Ereditarie Congenite) 20.000 Euro"Studi genetici e funzionali del DNA/RNA e delle proteine negli errori congeniti del metabolismo

2009-2011 Shire Human Genetic Therapies, Inc: 70.000 Euro"Potenziamento dell'attività enzimatica nelle malattie da sfingolipidosi causate da difetti conformazionali"

2009-2011 Actelion Pharmaceuticals Italia S.r.l.: 31.000 Euro"Studi funzionali biochimici, molecolari e cellulari nelle malattie da accumulo lisosomiale"

2007-2011 Genzyme Corporation: 80.000 Euro"Malattia di Fabry: analisi dei livelli di espressione di mRNA e proteine dell'alfa galattosidasi mutante" e Analisi Diagnostica Molecolare e Funzionale dei geni GAA (Malattia di Pompe) e GBA (Malattia di Gaucher)

2004-2007 Genzyme Corporation: 35.000 Euro"Studi biochimici e genetici sulle malattie da accumulo lisosomiale: la malattia di Fabry"

PI 2006-2008 del progetto PRIN dell'Unità locale: 22.400 Euro"Profilo dell'espressione genica GALNS e studio del ruolo del cheratan solfato sulla proteina legante l'elastina nei fibroblasti dei pazienti Morquio"

PI 2004-2006 del progetto PRIN dell'Unità locale: 30.000 Euro"Studi biochimici, genetici e molecolari del complesso multienzimatico lisosomiale, del recettore EBP e del nuovo approccio terapeutico farmacologico in vitro"

Telethon 1999-2000: 35.000 Euro"Analisi delle proteine EBP e GLB1 nei pazienti con gangliosidosi GM1"

Contributi scientifici

Scopus Author Id: 57203479442; ORCID ID: 0000-0003-2890-8179; RESEARCH ID: AAB-6766-2019. 147 lavori scientifici su riviste internazionali con revisione tra pari (Scopus, Dicembre 2023) H index: 30 Numero totale di citazioni= 3,387 Scopus

Appartenenza a Società Scientifiche:

Society for the Study of Inborn Errors of Metabolism (SSIEM);

European Study Group on Lysosomal Diseases (ESGLD);

Società Italiana Per lo Studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale (SIMMESN);

Società italiana di Genetica Umana (SIGU),

Revisore per riviste internazionali:

Attività di revisore scientifico per numerose riviste internazionali di genetica, biologia molecolare e neuroscienze (es. Hum Mut; JMG; JIMD; Clin Gen; MGM; Clin Biochem; EJMG; Epilepsia; DNA and Cell Biology; BBA).

Brevetti

-F. Cardona, C. Parmeggiani, C. Matassini, A. Goti, A. Morrone, S. Catarzi and G. D'Adamio, Università di Firenze, AOU Meyer. NUOVE PIRROLIDINE DENDRIMERICHE, LORO SINTESI E USO MEDICO ("New dendrimeric pyrrolidines, their synthesis and medical use"). Italian Patentn. 102016000013155 (2016).

-F. Cardona, C. Parmeggiani, C. Matassini, A. Goti, A. Morrone, S. Catarzi and G. D'Adamio, Università di Firenze, AOU Meyer.NEW DENDRIMERIC PYRROLIDINES, THEIR SYNTHESIS AND MEDICAL USE International Patent Application n. PCT/IB2017/050670" Application number: WO2017IB50670.20170208.

Premi e riconoscimenti:

Il team di ricerca da lei direttto ha vinto diversi premi per le migliori presentazioni orali e poster a congressi nazionali e internazionali, quali ad esempio:

-2022 SIMMESN

-2023 SSIEM

Membro del comitato scientifico di:- "Società Internazionale per la Mannosidosi e Malattie Correlate, ISMRD",- "Associazione Italiana Anderson - Fabry Onlus, AIAF"- "Associazione Italiana Gaucher, AIGF Onlus"

Altro

Dal 2021 al 2030, Abilitazione Scientifica Nazionale a professore ordinario in:- O6 A1: Genetica medica (2021)- 06 G1: Pediatria (2021)- 05 E1: Biochimica e biochimica clinica (2021)

Relatore su invito a numerosi Congressi Scientifici nazionali ed internazionaliRelatore invitato come esperto su “Diagnosis and Research on Inborn Errors of Metabolism” a congressi accademici internazionali:-Ospedale pediatrico di LinYi City - Cina (2016),-King Faisal Hospital, Riyad – Arabia Saudita (2014)-CHOP, Filadelfia - Stati Uniti (2017)

Amelia MORRONE

Interessi

Disturbi neurometabolici: studi genetici, cellulari, funzionali, riprogrammazione di iPSC e differenziamento neuronale.

Amo gli animali in particolare gatti e cani, mi piace la natura, l'architettura, l'arte e la musica .

Amelia MORRONE

Note

email aggiuntiva: amelia.morrone@meyer.it

Amo gli animali, soprattutto gatti e cani. Mi piace la natura, l'architettura, l'arte e la musica.

Amelia MORRONE

Pubblicazioni

Legenda

Contributo su rivista |

Articolo su libro |

Libro |

Contributo in atti di convegno (proceeding) |

Brevetto |

Curatela | Altro

Altro |

Tesi di Dottorato

Francesca Buco, Francesca Clemente, Amelia Morrone, Costanza Vanni, Francesca Cardona, Andrea Goti, Marco Marradi, Camilla Matassini (2025). Multivalent GCase enhancers: synthesis and evaluation of glyco- gold nanoparticles decorated with trihydroxypiperidine iminosugars. BIOCONJUGATE CHEMISTRY, vol. 36, pp. 92-103, ISSN:1043-1802 DOI Accesso ONLINE all'editore

Giuseppe Tagliaferro, Maria Giulia Davighi, Francesca Clemente,* Filippo Turchi, Marco Schiavina, Camilla Matassini, Andrea Goti, Amelia Morrone, Roberta Pierattelli,* Francesca Cardona,* Isabella C. Felli* (2025). Evidence of α‑Synuclein/Glucocerebrosidase Dual Targeting by Iminosugar Derivatives. ACS CHEMICAL NEUROSCIENCE, vol. 16, pp. 1251-1257, ISSN:1948-7193 DOI

Maria Giulia Davighi, Francesca Clemente, Emilie Sperling Andreasen, Mogens Brøndsted Nielsen, Camilla Matassini, Andrea Goti, Amelia Morrone, Paolo Paoli, Francesca Cardona, Martina Cacciarini (2024). Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers. CHEMISTRY & BIODIVERSITY, pp. 1-7, ISSN:1612-1880 DOI

Maria Giulia Davighi, Camilla Matassini, Francesca Clemente, Paolo Paoli, Amelia Morrone, Martina Cacciarini, Andrea Goti, Francesca Cardona (2024). pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene. CHEMBIOCHEM, pp. 1-13, ISSN:1439-7633 DOI Accesso ONLINE all'editore

Jacopo Cardellini, Caterina Dallari, Ilaria De Santis, Lorenzo Riccio, Costanza Ceni, Amelia Morrone, Martino Calamai, Francesco Saverio Pavone, Caterina Credi, Costanza Montis, Debora Berti (2024). Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applications. NATURE COMMUNICATIONS, vol. 15, pp. 0-0, ISSN:2041-1723 DOI

Zampieri, Stefania; Cattarossi, Silvia; Ferri, Lorenzo; Graziano, Claudio; Santostefano, Marisa; Morrone, Amelia; Dardis, Andrea (2024). The c.‐265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified. CLINICAL GENETICS, vol. Jul 18, pp. 1-2, ISSN:0009-9163 DOI

Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai (2024). Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction. MOLECULES, pp. 453-465, ISSN:1420-3049 DOI

Crippa, Stefania; Alberti, Gaia; Passerini, Laura; Savoia, Evelyn Oliva; Mancino, Marilena; De Ponti, Giada; Santi, Ludovica; Berti, Margherita; Testa, Marialuisa; Hernandez, Raisa Jofra; Quaranta, Pamela; Ceriotti, Selene; Visigalli, Ilaria; Morrone, Amelia; Paoli, Antonella; Forni, Claudia; Scala, Serena; Degano, Massimo; Staiano, Leopoldo; Gregori, Silvia; Aiuti, Alessandro; Bernardo, Maria Ester (2024). A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVB. MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT, vol. Volume 32(3); 2024 Sep 12, pp. 0-0, ISSN:2329-0501 DOI Accesso ONLINE all'editore

Amelia Morrone ; Renzo Guerrini (2024). Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.. STEM CELL RESEARCH, vol. 77, pp. 0-0, ISSN:1876-7753 DOI

Romani, Ilaria; Sarti, Cristina; Nencini, Patrizia; Pracucci, Giovanni; Zedde, Marialuisa; Cianci, Vittoria; Nucera, Antonia; Moller, Jessica; Orsucci, Daniele; Toni, Danilo; Palumbo, Pasquale; Casella, Carmela; Pinto, Vincenza; Barbarini, Leonardo; Bella, Rita; Scoditti, Umberto; Ragno, Michele; Mezzapesa, Domenico Maria; Tassi, Rossana; Volpi, Gino; Diomedi, Marina; Bigliardi, Guido; Cavallini, Anna Maria; Chiti, Alberto; Ricci, Stefano; Cecconi, Emanuela; Linoli, Giovanni; Sacco, Simona; Rasura, Maurizia; Giordano, Antonello; Bonetti, Bruno; Melis, Marta; Cariddi, Lucia Princiotta; Dossi, Roberto Currò; Grisendi, Ilaria; Aguglia, Umberto; Di Ruzza, Maria Rita; Melis, Maurizio; Sbardella, Emilia; Vista, Marco; Valenti, Raffaella; Musolino, Rosa Fortunata; Passarella, Bruno; Direnzo, Vita; Pennisi, Giovanni; Genovese, Antonio; Di Marzio, Fabio; Sgobio, Rossana; Acampa, Maurizio; Nannucci, Serena; Dagostino, Federica; Dell'Acqua, Maria Luisa; Cuzzoni, Maria Giovanna; Picchioni, Antonella; Calchetti, Benedetta; Notturno, Francesca; Di Lisi, Filomena; Forlivesi, Stefano; Delodovici, Maria Luisa; Buechner, Susanne Christiane; Biagini, Silvia; Accavone, Donatella; Manna, Raffaele; Morrone, Amelia; Inzitari, Domenico (2024). Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry. JOURNAL OF THE NEUROLOGICAL SCIENCES, vol. 457, pp. 0-0, ISSN:0022-510X DOI

Francesca Buco, Camilla Matassini, Francesca Clemente, Francesca Cardona, Amelia Morrone, Marco Marradi (2024). Multivalent iminosugars as enhancers of the lysosomal enzyme GCase activity. In: 3rd PiCSU PhD Symposium 2024, -, pp. 0-0.

Buco, Francesca; Matassini, Camilla; Vanni, Costanza; Clemente, Francesca; Paoli, Paolo; Carozzini, Cosimo; Beni, Alice; Cardona, Francesca; Goti, Andrea; Moya, Sergio Enrique; Ortore, Maria Grazia; Andreozzi, Patrizia; Morrone, Amelia; Marradi, Marco (2023). Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS). ORGANIC & BIOMOLECULAR CHEMISTRY, pp. 0-0, ISSN:1477-0520 DOI Accesso ONLINE all'editore

Francesca Buco, Camilla Matassini, Francesca Clemente, Amelia Morrone, Marco Marradi (2023). Gold Nanoparticles as Scaffolds for the Multimerization of Iminosugars: New Multivalent Modulators of the Enzyme GCase. In: 2nd PiCSU PhD Symposium 2023, -, pp. 0-0.

amelia morrone; Guerrini Renzo (2023). Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector. STEM CELL RESEARCH, vol. 73:103235., pp. 1-4, ISSN:1876-7753 DOI

Francesca Clemente, Maria Giulia Davighi, Camilla Matassini, Francesca Cardona, Andrea Goti, Amelia Morrone, Paolo Paoli, Tomás Tejero, Pedro Merino, Martina Cacciarini (2023). Light-Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological Chaperones. CHEMISTRY, vol. 29, pp. 1-12, ISSN:1521-3765 DOI

Vanni, C; Cardona, F; Clemente, F; Morrone, A; Raudino, M; Ambrosi, M; Lo Nostro, P; Matassini, C (2023). Amphiphilic Iminosugar Pharmacological Chaperones towards beta-Glucocerebrosidase: Self-Assembly and Biological Activity. EUROPEAN JOURNAL OF ORGANIC CHEMISTRY, vol. 26, pp. 1-11, ISSN:1434-193X DOI Accesso ONLINE all'editore

Fiumara, Agata; Sapuppo, Annamaria; Ferri, Lorenzo; Arena, Alessia; Prato, Adriana; Garozzo, Domenico; Sturiale, Luisa; Morrone, Amelia; Barone, Rita (2023). Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation. EUROPEAN JOURNAL OF MEDICAL GENETICS, vol. 66, pp. 1-6, ISSN:1769-7212 DOI

Ruoppolo, Margherita; Malvagia, Sabrina; Boenzi, Sara; Carducci, Carla; Dionisi-Vici, Carlo; Teofoli, Francesca; Burlina, Alberto; Angeloni, Antonio; Aronica, Tommaso; Bordugo, Andrea; Bucci, Ines; Camilot, Marta; Carbone, Maria Teresa; Cardinali, Roberta; Carducci, Claudia; Cassanello, Michela; Castana, Cinzia; Cazzorla, Chiara; Ciatti, Renzo; Ferrari, Simona; Frisso, Giulia; Funghini, Silvia; Furlan, Francesca; Gasperini, Serena; Gragnaniello, Vincenza; Guzzetti, Chiara; La Marca, Giancarlo; La Spina, Luisa; Lorè, Tania; Meli, Concetta; Messina, MariaAnna; Morrone, Amelia; Nardecchia, Francesca; Ortolano, Rita; Parenti, Giancarlo; Pavanello, Enza; Pieragostino, Damiana; Pillai, Sara; Porta, Francesco; Righetti, Francesca; Rossi, Claudia; Rovelli, Valentina; Salina, Alessandro; Santoro, Laura; Sauro, Pina; Schiaffino, Maria Cristina; Simonetti, Simonetta; Vincenzi, Monica; Tarsi, Elisabetta; Uccheddu, Anna Paola (2022). Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, vol. 8, pp. 0-0, ISSN:2409-515X DOI

Chiesa I.; De Maria C.; Ceccarini M.R.; Mussolin L.; Coletta R.; Morabito A.; Tonin R.; Calamai M.; Morrone A.; Beccari T.; Valentini L. (2022). 3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for in Vivo Monitoring on Soft Tissues. ACS APPLIED MATERIALS & INTERFACES, vol. 14, pp. 19253-19264, ISSN:1944-8244 DOI

Pagano, M; Fumagalli, C; Girolami, F; Passantino, S; Gozzini, A; Brambilla, A; Spinelli, V; Morrone, A; Procopio, E; Pochiero, F; Donati, M A; Olivotto, I; Favilli, S (2022). Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre. INTERNATIONAL JOURNAL OF CARDIOLOGY, pp. 0-0, ISSN:1874-1754 DOI

Di Patria L.; Annibalini G.; Morrone A.; Ferri L.; Saltarelli R.; Galluzzi L.; Diotallevi A.; Bocconcelli M.; Donati M.A.; Barone R.; Guerrini R.; Jaeken J.; Stocchi V.; Barbieri E. (2022). Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation. CELLULAR AND MOLECULAR LIFE SCIENCES, vol. 79, pp. 0-0, ISSN:1420-682X DOI

Oussalah A.; Siblini Y.; Hergalant S.; Chery C.; Rouyer P.; Cavicchi C.; Guerrini R.; Morange P.-E.; Tregouet D.; Pupavac M.; Watkins D.; Pastinen T.; Chung W.K.; Ficicioglu C.; Feillet F.; Froese D.S.; Baumgartner M.R.; Benoist J.-F.; Majewski J.; Morrone A.; Rosenblatt D.S.; Gueant J.-L. (2022). Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. CLINICAL EPIGENETICS, vol. 14, pp. 0-0, ISSN:1868-7083 DOI

Maria Giulia Davighi, Francesca Clemente, Camilla Matassini, Francesca Cardona, Mogens Brøndsted Nielsen, Andrea Goti, Amelia Morrone, Paolo Paoli, Martina Cacciarini (2022). Photoswitchable inhibitors of human β-glucocerebrosidase. ORGANIC & BIOMOLECULAR CHEMISTRY, vol. 20, pp. 1637-1641, ISSN:1477-0539 DOI Accesso ONLINE all'editore

Costanza Vanni, Francesca Clemente, Paolo Paoli, Amelia Morrone, Camilla Matassini, Andrea Goti, Francesca Cardona (2022). 3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers. CHEMBIOCHEM, vol. 23, pp. 1-8, ISSN:1439-7633 DOI Accesso ONLINE all'editore

Francesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, Amelia Morrone, Silvia Falliano, Anna Caciotti, Paolo Paoli, Andrea Goti, Francesca Cardona (2022). Synthesis of a New beta-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis. MOLECULES, vol. 27, pp. 4008-4028, ISSN:1420-3049 DOI Accesso ONLINE all'editore

Capitini, Claudia; Feo, Federica; Caciotti, Anna; Tonin, Rodolfo; Lulli, Matteo; Coviello, Domenico; Guerrini, Renzo; Calamai, Martino; Morrone, Amelia (2022). Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C. BIOMEDICINES, vol. 10, pp. 0-0, ISSN:2227-9059 DOI

Nardecchia F.; Caciotti A.; Giovanniello T.; De Leo S.; Ferri L.; Galosi S.; Santagata S.; Torres B.; Bernardini L.; Carducci C.; Morrone A.; Leuzzi V. (2022). 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, vol. 23, pp. 0-0, ISSN:1661-6596 DOI

Cuadros Gamboa A.L.; Benfante R.; Nizzardo M.; Bachetti T.; Pelucchi P.; Melzi V.; Arzilli C.; Peruzzi M.; Reinbold R.A.; Cardani S.; Morrone A.; Guerrini R.; Zucchi I.; Corti S.; Ceccherini I.; Piumelli R.; Nassi N.; Di Lascio S.; Fornasari D. (2022). Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene. STEM CELL RESEARCH, vol. 61, pp. 0-0, ISSN:1873-5061 DOI

Francesca Clemente, Camilla Matassini, Sara Giachetti, Andrea Goti, Amelia Morrone, Macarena Martínez-Bailén, Sara Orta, Pedro Merino, Francesca Cardona (2021). Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase). JOURNAL OF ORGANIC CHEMISTRY, vol. 86, pp. 12745-12761, ISSN:0022-3263 DOI

Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; Chien Y.-H.; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R. (2021). Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. HUMAN MUTATION, vol. 42, pp. 1384-1398, ISSN:1059-7794 DOI

Lugli, L; Bariola, MC; Ferri, L; Lucaccioni, L; Bertucci, E; Cattini, U; Torcetta, F; Morrone, A; Iughetti, L; Berardi, A (2021). Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, vol. 185, pp. 1187-1194-1194, ISSN:1552-4825 DOI

Bon S.B.; Chiesa I.; Degli Esposti M.; Morselli D.; Fabbri P.; De Maria C.; Morabito A.; Coletta R.; Calamai M.; Pavone F.S.; Tonin R.; Morrone A.; Giorgi G.; Valentini L. (2021). Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties. ACS APPLIED MATERIALS & INTERFACES, vol. 13, pp. 7-17, ISSN:1944-8244 DOI

Malvagia S.; Ferri L.; Della Bona M.; Borsini W.; Cirami C.L.; Derwishi E.; Feriozzi S.; Gasperini S.; Motta S.; Mignani R.; Trezzi B.; Pieruzzi F.; Morrone A.; Daniotti M.; Donati M.A.; La Marca G. (2021). Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, vol. 0, pp. 0-0, ISSN:1434-6621 DOI

Pettinato F.; Mostile G.; Battini R.; Martinelli D.; Madeo A.; Biamino E.; Frattini D.; Garozzo D.; Gasperini S.; Parini R.; Sirchia F.; Sortino G.; Sturiale L.; Matthijs G.; Morrone A.; Di Rocco M.; Rizzo R.; Jaeken J.; Fiumara A.; Barone R. (2021). Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG). THE CEREBELLUM, vol. xx, pp. .-.., ISSN:1473-4222 DOI

Cavicchi C.; Oussalah A.; Falliano S.; Ferri L.; Gozzini A.; Gasperini S.; Motta S.; Rigoldi M.; Parenti G.; Tummolo A.; Meli C.; Menni F.; Furlan F.; Daniotti M.; Malvagia S.; la Marca G.; Chery C.; Morange P.-E.; Tregouet D.; Donati M.A.; Guerrini R.; Gueant J.-L.; Morrone A. (2021). PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations. CLINICAL EPIGENETICS, vol. 13, pp. 137-148, ISSN:1868-7083 DOI

Caciotti, Anna; Cellai, Lucrezia; Tonin, Rodolfo; Mei, Davide; Procopio, Elena; Di Rocco, Maja; Andaloro, Antonio; Antuzzi, Daniela; Rampazzo, Angelica; Rigoldi, Miriam; Forni, Giulia; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia (2021). Morquio B disease: From pathophysiology towards diagnosis. MOLECULAR GENETICS AND METABOLISM, vol. 132, pp. 180-188, ISSN:1096-7192 DOI

Camilla Matassini, Julia Warren, Bo Wang, Andrea Goti, Francesca Cardona, Amelia Morrone, Mikael Bols (2020). Imino- and azasugar protonation inside human acid Beta-glucosidase, the enzyme defective in Gaucher disease. ANGEWANDTE CHEMIE. INTERNATIONAL EDITION, vol. 59, pp. 10466-10469, ISSN:1433-7851 DOI Accesso ONLINE all'editore

Francesca Clemente, Camilla Matassini, Cristina Faggi, Sara Giachetti, Cosimo Cresti, Amelia Morrone, Paolo Paoli, Andrea Goti, Macarena Martínez-Bailén, Francesca Cardona (2020). Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning. BIOORGANIC CHEMISTRY, vol. 98, pp. 103740-103762, ISSN:0045-2068 DOI Accesso ONLINE all'editore

Brambilla A.; Olivotto I.; Favilli S.; Spaziani G.; Passantino S.; Procopio E.; Morrone A.; Donati M.A. (2020). Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders. ORPHANET JOURNAL OF RARE DISEASES, vol. 15, pp. 0-0, ISSN:1750-1172 DOI

Fischetto R.; Palladino V.; Mancardi M.M.; Giacomini T.; Palladino S.; Gaeta A.; Di Rocco M.; Zampini L.; Lassandro G.; Favia V.; Tripaldi M.E.; Strisciuglio P.; Romano A.; Severino M.; Morrone A.; Giordano P. (2020). Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience. MOLECULAR GENETICS & GENOMIC MEDICINE, vol. 8, pp. 1-10, ISSN:2324-9269 DOI Accesso ONLINE all'editore

Caciotti A.; Procopio E.; Pochiero F.; Falliano S.; Indolfi G.; Donati M.A.; Ferri L.; Guerrini R.; Morrone A. (2020). SARS-CoV-2 infection in a patient with propionic acidemia. ORPHANET JOURNAL OF RARE DISEASES, vol. 15, pp. 306-311, ISSN:1750-1172 DOI

Caciotti A.; Melani F.; Tonin R.; Cellai L.; Catarzi S.; Procopio E.; Chilleri C.; Mavridou I.; Michelakakis H.; Fioravanti A.; d'Azzo A.; Guerrini R.; Morrone A. (2020). Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. MOLECULAR GENETICS AND METABOLISM, vol. 129, pp. 47-58, ISSN:1096-7192 DOI Accesso ONLINE all'editore

Fontana L.; Santoro M.; D'Apice M.R.; Peluso F.; Gori G.; Morrone A.; Novelli G.; Dosa L.; Botta A. (2020). Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family. ACTA MYOLOGICA, vol. 39, pp. 13-18, ISSN:1128-2460 DOI

Funghini S.; Tonin R.; Malvagia S.; Caciotti A.; Donati M.A.; Morrone A.; la Marca G. (2020). High frequency of biotinidase deficiency in Italian population identified by newborn screening. MOLECULAR GENETICS AND METABOLISM REPORTS, vol. 25, pp. 100689-100689, ISSN:2214-4269 DOI

Carboni E.; Sestito S.; Lucente M.; Morrone A.; Zampini L.; Chimenz R.; Ceravolo M.D.; De Sarro R.; Ceravolo G.; Calabro M.P.; Parisi F.; Moricca M.T.; Pensabene L.; Musolino D.; Concolino D. (2020). Dilated cardiomyopathy in mucolipidosis type 2. JOURNAL OF BIOLOGICAL REGULATORS & HOMEOSTATIC AGENTS, vol. 34, pp. 71-77, ISSN:0393-974X

Maria Giulia Davighi, Francesca Clemente, Camilla Matassini, Amelia Morrone , Andrea Goti, Macarena Martínez-Bailén, Francesca Cardona (2020). Synthesis of “All-Cis” Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New -Gal and GCase Inhibitors. MOLECULES, vol. 25, pp. 4526-4548, ISSN:1420-3049 DOI

Ilaria Tanini; Iacopo Olivotto; Andrea Matucci; Lino Cirami; Walter Borsini; Patrizia Nencini; Rudi Pecci; Andrea Sodi; Maria Alice Donati; Amelia Morrone; Marzia Caproni; Franco Cecchi (2019). Malattia di Anderson-Fabry. TOSCANA MEDICA, pp. 18-21, ISSN:2611-9412

Francesca Clemente, Camilla Matassini, Andrea Goti, Amelia Morrone, Paolo Paoli, Francesca Cardona (2019). Stereoselective Synthesis of C‑2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease. ACS MEDICINAL CHEMISTRY LETTERS, vol. 10, pp. 621-626, ISSN:1948-5875 DOI

Tonin R.; Caciotti A.; Procopio E.; Fischetto R.; Deodato F.; Mancardi M.M.; Di Rocco M.; Ardissone A.; Salviati A.; Marangi A.; Strisciuglio P.; Mangone G.; Casini A.; Ricci S.; Fiumara A.; Parini R.; Pavone F.S.; Guerrini R.; Calamai M.; Morrone A. (2019). Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content. SCIENTIFIC REPORTS, vol. 9, pp. 53995-54005, ISSN:2045-2322 DOI

Bergsma, Atze J.; in 't Groen, Stijn L.M.; van den Dorpel, Jan J.A.; van den Hout, Hannerieke J.M.P.; van der Beek, Nadine A.M.E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W.W.M. Pim (2019). A genetic modifier of symptom onset in Pompe disease. EBIOMEDICINE, vol. 43, pp. 553-561, ISSN:2352-3964, Elsevier B.V.: DOI Accesso ONLINE all'editore

Xhenti Ferhati, Camilla Matassini, Maria Giulia Fabbrini, Andrea Goti, Amelia Morrone, Francesca Cardona, Antonio J. Moreno-Vargas, Paolo Paoli (2019). Dual targeting of PTP1B and glucosidases with new bifunctional iminosugar inhibitors to address type 2 diabetes. BIOORGANIC CHEMISTRY, vol. 2019, pp. 534-549, ISSN:0045-2068 DOI

Rodolfo Tonin; Serena Catarzi; Anna Caciotti · Elena Procopio· Carla Marini; · Renzo Guerrini; · Amelia Morrone (2019). Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.. JOURNAL OF NEUROLOGY, pp. 1-10, ISSN:0340-5354 DOI Accesso ONLINE all'editore

Girolami F.; Morrone A.; Brambilla A.; Ferri L.; Donati M.A.; Olivotto I.; Favilli S. (2018). Genetic testing in pediatric cardiomyopathies: Implications for diagnosis and management. PROGRESS IN PEDIATRIC CARDIOLOGY, vol. 51, pp. 24-30, ISSN:1058-9813 DOI Accesso ONLINE all'editore

Caciotti, Anna; Tonin, Rodolfo; Mort, Matthew; Cooper, David N.; Gasperini, Serena; Rigoldi, Miriam; Parini, Rossella; Deodato, Federica; Taurisano, Roberta; Sibilio, Michelina; Parenti, Giancarlo; Guerrini, Renzo; Morrone, Amelia (2018). Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease. BMC MEDICAL GENETICS, vol. 19, pp. 1-9, ISSN:1471-2350 DOI Accesso ONLINE all'editore

Mirella Filocamo, Rosella Tomanin, Francesca Bertola; Amelia Morrone (2018). Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.. THE ITALIAN JOURNAL OF PEDIATRICS, vol. 16, pp. 36-45, ISSN:1824-7288 DOI Accesso ONLINE all'editore

Maurizi, Niccolò*; Ammirati, Enrico; Coppini, Raffaele; Morrone, Amelia; Olivotto, Iacopo (2018). Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials. HEART FAILURE CLINICS, vol. 14, pp. 161-178, ISSN:1551-7136 DOI Accesso ONLINE all'editore

Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; La Marca, Giancarlo; Donati, Maria Alice; Morrone, Amelia (2018). Late-onset n-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, vol. 19, pp. 1-9, ISSN:1661-6596 DOI Accesso ONLINE all'editore

Ferri L, Malesci D, Fioravanti A, Bagordo G, Filippini A, Ficcadenti A, Manna R, Antuzzi D, Verrecchia E, Donati I, Mignani R, Cavicchi C, Guerrini R, Morrone A. (2018). Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ. CLINICA CHIMICA ACTA, pp. 0-0, ISSN:0009-8981 DOI

C. Matassini, C. Vanni, A. Goti, A. Morrone, M. Marradi, F. Cardona (2018). Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors. ORGANIC & BIOMOLECULAR CHEMISTRY, vol. 2018, pp. 8604-8612, ISSN:1477-0520 DOI

Front, Sophie; Biela-Banaś, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stéphane; Martin, Olivier R (2017). (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY, vol. 126, pp. 160-170, ISSN:0223-5234 DOI Accesso ONLINE all'editore

Bacci, Gm; Donati, Ma; Pasquini, E; Munier, F; Cavicchi, C; Morrone, A; Sodi, A; Murro, V; Garcia Segarra, N; Defilippi, C; Bussolin, L; Caputo, R. (2017). Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. ACTA OPHTHALMOLOGICA, vol. 97, pp. 776-782, ISSN:1755-375X DOI

Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi , Filippo Crea, Raffaele Manna (2017). Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin. EUROPEAN JOURNAL OF CASE REPORTS IN INTERNAL MEDICINE, vol. 3, pp. 347-349, ISSN:2284-2594 DOI

Deodato, Federica; Procopio, Elena; Rampazzo, Angelica; Taurisano, Roberta; Donati, Maria Alice; Dionisi-Vici, Carlo; Caciotti, Anna; Morrone, Amelia; Scarpa, Maurizio (2017). The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. METABOLIC BRAIN DISEASE, vol. 32, pp. 1529-1536, ISSN:0885-7490 DOI Accesso ONLINE all'editore

Ardissino, Gianluigi; Perrone, Michela; Tel, Francesca; Testa, Sara; Morrone, Amelia; Possenti, Ilaria; Tagliaferri, Francesco; Dilena, Robertino; Menni, Francesca (2017). Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome. CASE REPORTS IN PEDIATRICS, vol. 2017, pp. 1-4, ISSN:2090-6803 DOI

Verrecchia, Elena; Zampetti, Anna; Antuzzi, Daniela; Ricci, Roberta; Ferri, Lorenzo; Morrone, Amelia; Feliciani, Claudio; Dagna, Lorenzo; Manna, Raffaele (2016). The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis. EUROPEAN JOURNAL OF INTERNAL MEDICINE, vol. 32, pp. 26-30, ISSN:0953-6205 DOI Accesso ONLINE all'editore

Ferri, Lorenzo; Cavicchi, Catia; Fiumara, Agata; Parini, Rossella; Guerrini, Renzo; Morrone, Amelia (2016). Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease. CLINICA CHIMICA ACTA, vol. 452, pp. 82-86, ISSN:0009-8981 DOI Accesso ONLINE all'editore

Matassini, C; D'Adamio, G.; Parmeggiani, C.; Catarzi, S.; Goti, A.; Morrone, A.; Cardona, F. (2016). Iminosugar based pharmacological chaperones: selecting new leads to target Gaucher, Morquio A and Hunter Disease. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 39, pp. 182-182, ISSN:1573-2665

Ferri, Lorenzo; Dionisi-Vici, Carlo; Taurisano, Roberta; Vaz, Frédéric Maxime; Guerrini, Renzo; Morrone, Amelia (2016). When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. CLINICAL GENETICS, vol. 90, pp. 0-0, ISSN:1399-0004 DOI Accesso ONLINE all'editore

Tonin, Rodolfo; Caciotti, Anna; Funghini, Silvia; Pasquini, Elisabetta; Mooney, Sean D; Cai, Binghuang; Proncopio, Elena; Donati, Maria Alice; Baronio, Federico; Bettocchi, Ilaria; Cassio, Alessandra; Biasucci, Giacomo; Bordugo, Andrea; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia (2016). Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation. BBA CLINICAL, vol. 5, pp. 114-119, ISSN:2214-6474 DOI Accesso ONLINE all'editore

F. Cardona, C. Parmeggiani, C. Matassini, A. Goti, A. Morrone, S. Catarzi, G. D’Adamio (2016). NUOVE PIRROLIDINE DENDRIMERICHE, LORO SINTESI E USO MEDICO. Numero: 102016000013155 Università degli Studi di Firenze e Azienda Ospedaliero-Universitaria Meyer (AOUM)

Ferri, Lorenzo; Covello, Giuseppina; Caciotti, Anna; Guerrini, Renzo; Denti, Michela Alessandra; Morrone, Amelia (2016). Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations. MOLECULAR THERAPY NUCLEIC ACIDS, vol. 5, pp. 1-12, ISSN:2162-2531 DOI Accesso ONLINE all'editore

D'Adamio, Giampero; Matassini, Camilla; Parmeggiani, Camilla; Catarzi, Serena; Morrone, Amelia; Goti, Andrea; Paoli, Paolo; Cardona, Francesca (2016). Evidence for a multivalent effect in inhibition of sulfatases involved in lysosomal storage disorders (LSDs). RSC ADVANCES, vol. 6, pp. 64847-64851, ISSN:2046-2069 DOI

Barba, C.; Darra, F.; Cusmai, R.; Procopio, E.; Dionisi Vici, C.; Keldermans, L.; Vuillaumier Barrot, S.; Lefeber, D. J.; Guerrini, Renzo; Cdg, Group; Parrini, E.; Ashikov, A.; Bordugo, A.; Cantalupo, G.; Casara, G.; Bernardina, B. D.; Falchi, M.; Ferri, L.; Martinelli, D.; Morrone, Amelia; Race, V.; Rosati, A.; Souche, E. (2016). Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, vol. 58, pp. 1085-1091, ISSN:1469-8749 DOI Accesso ONLINE all'editore

Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R. (2015). Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. JOURNAL OF MEDICAL GENETICS, vol. 9, pp. 405-412, ISSN:0022-2593 DOI

Romani, Ilaria; Borsini, Walter; Nencini, Patrizia; Morrone, Amelia; Ferri, Lorenzo; Frusconi, Sabrina; Donadio, Vincenzo Angelo; Liguori, Rocco; Donati, Maria Alice; Falconi, Serena; Pracucci, Giovanni; Inzitari, Domenico (2015). De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack. JOURNAL OF STROKE AND CEREBROVASCULAR DISEASES, vol. 24, pp. 2588-2595, ISSN:1052-3057 DOI Accesso ONLINE all'editore

Parmeggiani, Camilla; Catarzi, Serena; Matassini, Camilla; D’Adamio, Giampiero; Morrone, Amelia ; Goti, Andrea; Paoli, Paolo; Cardona, Francesca (2015). Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease. CHEMBIOCHEM, vol. 16, pp. 2054-2064, ISSN:1439-4227 DOI

Caciotti A; Tonin R; Rigoldi M; Ferri L; Catarzi S; Cavicchi C; Procopio E; Donati MA; Ficcadenti A; Fiumara A; Barone R; Garavelli L; Rocco MD; Filocamo M; Antuzzi D; Scarpa M; Mooney SD; Li B; Skouma A; Bianca S; Concolino D; Casalone R; Monti E; Pantaleo M; Giglio S; Guerrini R; Parini R; Morrone A. (2015). Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations. HUMAN MUTATION, vol. 36 (3), pp. 357-368, ISSN:1059-7794 DOI

Ferri L; Donati MA; Funghini S; Cavicchi C; Pensato V; Gellera C; Natacci F; Spaccini L; Gasperini S; Vaz FM; Cooper DN; Guerrini R; Morrone A (2015). Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.. EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 18, pp. 1708-1712, ISSN:1018-4813 DOI

Tonin R; Caciotti A; Funghini S; la Marca G; Pasquini E; Cayton E; Mooney SD; Guerrini R; Morrone A. (2015). Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.. CLINICA CHIMICA ACTA, vol. 18, pp. 70-72, ISSN:0009-8981 DOI

Pieruzzi, F; Pieroni, M; Zachara, E; Marziliano, N; Morrone, A; Cecchi, F6. (2015). Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management. GIORNALE ITALIANO DI CARDIOLOGIA, vol. 16, pp. 630-638, ISSN:1972-6481 DOI

Cavicchi C; Donati M; Parini R; Rigoldi M; Bernardi M; Orfei F; Gentiloni Silveri N; Colasante A; Funghini S; Catarzi S; Pasquini E; la Marca G; Mooney S; Guerrini R; Morrone A. (2014). Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.. ORPHANET JOURNAL OF RARE DISEASES, pp. 105-114, ISSN:1750-1172 DOI

Morrone A; Caciotti A; Atwood R; Davidson K; Du C; Francis-Lyon P; Harmatz P; Mealiffe M; Mooney S; Oron TR; Ryles A; Zawadzki KA; Miller N. (2014). Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. HUMAN MUTATION, vol. 35, pp. 1271-1279, ISSN:1059-7794 DOI

Tonin R; Caciotti A; Vasarri M; Reni S; De Nardi A; Guerrini R; Filocamo M; Morrone A (2014). Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, Springer, pp. S140-s140.

M Rigoldi;D Concolino;A Morrone;F Pieruzzi;R Ravaglia;F Furlan;F Santus;P Strisciuglio;G Torti;R Parini (2014). Intrafamilial phenotypic variability in four families with Anderson-Fabry disease. CLINICAL GENETICS, vol. .., pp. 258-263, ISSN:0009-9163 DOI

Caciotti, A.; Tonin, R.; Ferri, L.; Catarzi, S.; Cavicchi, C.; Parini, R.; Rigoldi, M.; Scarpa, M.; Giovannini, I.; Mooney, S. D.; Pantaleo, M.; Giglio, S.; Procopio, E.; Donati, M. A.; Guerrini, R.; Morrone, A. (2014). Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome. In: European society of Human Genetics 2014, Milano, -NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW -S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234, pp. 136-136.

Morrone A; Tylee KL; Al-Sayed M; Brusius-Facchin AC; Caciotti A; Church HJ; Coll MJ; Davidson K; Fietz MJ; Gort L; Hegde M; Kubaski F; Lacerda L; Laranjeira F; Leistner-Segal S; Mooney S; Pajares S; Pollard L; Ribeiro I; Wang RY; Miller N. (2014). Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. MOLECULAR GENETICS AND METABOLISM, vol. 112( 2), pp. 160-170, ISSN:1096-7192 DOI

Ferri, L; Funghini, S; Fioravanti, A; Biondi, Eg; LA MARCA, Giancarlo; Guerrini, Renzo; Donati, Ma; Morrone, Amelia (2014). Aminoacylase I deficiency due to ACY1 mRNA exon skipping.. CLINICAL GENETICS, vol. 86(4), pp. 367-372, ISSN:0009-9163 DOI

Anna Caciotti;Serena Catarzi;Rodolfo Tonin;Licia Lugli;Carmen Perez;Helen Michelakakis;Irene Mavridou;Maria Donati;Renzo Guerrini;Alessandra d’Azzo;Amelia Morrone (2013). Galactosialidosis: review and analysis of CTSA gene mutations. ORPHANET JOURNAL OF RARE DISEASES, vol. 8, pp. 114-122, ISSN:1750-1172 DOI

Tomberli, B; Cecchi, F; Sciagrà, R; Berti, V; Lisi, F; Torricelli, F; Morrone, A; Castelli, G; Yacoub, Mh; Olivotto, I. (2013). Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease.. EUROPEAN JOURNAL OF HEART FAILURE, vol. 15, pp. 1363-1373, ISSN:1388-9842 DOI

Catarzi S; Tonin R ; Caciotti A; Thusberg J; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney and Morrone A (2013). MCAD DEFICIENCY: INSIGHTS ON NOVEL MUTATIONS IN THE ACADM GENE. In: 12th International congress of inborn errors of metabolism, Barcellona, Springer, pp. S193-S193.

Tummolo, A; Favia, V; Bellantuono, R; Bellino, V; Ranieri, A; Morrone, A; De Palo, T; Papadia, F. (2013). Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency. PEDIATRIC EMERGENCY CARE, pp. 656-658, ISSN:0749-5161 DOI

Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA; Baronio F; Guerrini R; Mooney SD; Morrone A. (2013). Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.. THE SCIENTIFIC WORLD JOURNAL, vol. 2013, pp. 1-9, ISSN:2356-6140 DOI

Ferri L; Donati MA; Funghini S; Malvagia S; Catarzi S; Lugli L; Ragni L; Bertini E; Vaz FM; Cooper DN; Guerrini R; Morrone A. (2013). New clinical and molecular insights on Barth syndrome.. ORPHANET JOURNAL OF RARE DISEASES, vol. 8, pp. 27-27, ISSN:1750-1172 DOI

Catarzi S; Giunti L; Papadia F; Gabrielli O; Guerrini R; Donati MA; Genuardi M; Morrone A. (2012). Morquio A syndrome due to Maternal Uniparental Isodisomy of thetelomeric end of chromosome 16.. MOLECULAR GENETICS AND METABOLISM, vol. 105(3), pp. 438-442, ISSN:1096-7192 DOI

Ferri L; Caciotti A; Cavicchi C; Rigoldi M; Parini R; Caserta M; Chibbaro G; Gasperini S; Procopio E; Donati MA; Guerrini R; Morrone A. (2012). Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 6, pp. 31-37, ISSN:0141-8955

Lorenzo Ferri; Anna Caciotti; Catia Cavicchi; Miriam Rigoldi; Rossella Parini; Marina Caserta; Guido Chibbaro; Serena Gasperini; Elena Procopio; Maria Alice Donati; Renzo Guerrini; Amelia Morrone (2012). Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. JIMD REPORTS, pp. 31-37, ISSN:2192-8304 DOI

Lovera C; Porta F; Caciotti A; Catarzi S; Cassanello M; Caruso U; Gallina MR; Morrone A; Spada M. (2012). Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.. THE ITALIAN JOURNAL OF PEDIATRICS, pp. 59-59, ISSN:1824-7288 DOI

Funghini S; Thusberg J; Spada M; Gasperini S; Parini R; Ventura L; Meli C; De Cosmo L; Sibilio M; Mooney SD; Guerrini R; Donati MA; Morrone A. (2012). Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.. GENE, vol. 493, pp. 228-234, ISSN:0378-1119 DOI

Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M, Morrone A,Cardinali G, Kovacs D, Aspite N, Linder D, Parini R, Feliciani C; (2012). The Interdisciplinary Study Group on Fabry Disease (ISGF). Angiokeratoma: DecisionMaking Methodology for the Diagnosis of Fabry Disease.. BRITISH JOURNAL OF DERMATOLOGY, vol. 166(4), pp. 712-720, ISSN:0007-0963 DOI

Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle C; Wu X; Valenzano K; Benjamin E; Donati M; Guerrini R; Genuardi M; Morrone A. (2012). Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.. CLINICAL GENETICS, vol. 81, pp. 224-233, ISSN:0009-9163 DOI Accesso ONLINE all'editore

Caciotti A; Garman SC; Rivera-Colón Y; Procopio E; Catarzi S; Ferri L; Guido C; Martelli P; Parini R; Antuzzi D; Battini R; Sibilio M; Simonati A; Fontana E; Salviati A; Akinci G; Cereda C; Dionisi-Vici C; Deodato F; d'Amico A; d'Azzo A; Bertini E; Filocamo M; Scarpa M; di Rocco M; Tifft CJ; Ciani F; Gasperini S; Pasquini E; Guerrini R; Donati MA; Morrone A. (2011). GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.. BIOCHIMICA ET BIOPHYSICA ACTA, vol. 1812 (7), pp. 782-790, ISSN:0006-3002 DOI

Caciotti A; Garman SC; Rivera-Colón Y; Procopio E; Catarzi S; Ferri L; Guido C; Martelli P; Parini R; Antuzzi D; Battini R; Sibilio M; Simonati A; Fontana E; Salviati A; Akinci G; Cereda C; Dionisi-Vici C; Deodato F; d'Amico A; d'Azzo A; Bertini E; Filocamo M; Scarpa M; di Rocco M; Tifft CJ; Ciani F; Gasperini S;Pasquini E; Guerrini R; Donati MA; Morrone A. (2011). GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011 Jul;1812(7):782-90.. BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE, vol. 1812(7), pp. 782-790, ISSN:0925-4439

la Marca G; Malvagia S; Pasquini E; Cavicchi C; Morrone A; Ciani F; Funghini S; Villanelli F; Zammarchi E; Guerrini R. (2011). Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 1, pp. 107-109, ISSN:0141-8955 DOI

Filocamo M; Morrone A (2011). Lysosomal storage disorders: molecular basis andlaboratory testing.. HUMAN GENOMICS, vol. 5(3), pp. 156-169, ISSN:1479-7364 DOI

E. Zammarchi, MA Donati; A Morrone (2010). Errori Congeniti del Metabolismo. In: G. Neri, M. Genuardi. Genetica Umana e Medica, pp. 395-419, Milano: Elseveir-Masson.

Cavicchi C.; Morrone A; Parini R (2010). OTC GENE MUTATIONS ASSOCIATED WITH FATAL HYPERAMMONEMIA IN PREVIOUSLY HEALTHY ADULT PATIENTS. JOURNAL OF INHERITED METABOLIC DISEASE, pp. S120-S120, ISSN:0141-8955

C FILONI; A CACIOTTI; L CARRARESI; C CAVICCHI; R PARINI; D ANTUZZI; A ZAMPETTI; S FERIOZZI; P POISETTI; SC GARMAN; R GUERRINI; E ZAMMARCHI; MA DONATI; A MORRONE. (2010). Functional studies of new GLA gene mutations leading to conformational fabry disease.. BIOCHIMICA ET BIOPHYSICA ACTA, vol. 1802 (2), pp. 247-252, ISSN:0006-3002 DOI

C. CAVICCHI; S. MALVAGIA; G. LA MARCA; S. GASPERINI; M.A. DONATI; E. ZAMMARCHI; R. GUERRINI; A. MORRONE; E. PASQUINI (2009). Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.. JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS, vol. 49(5), pp. 1292-1295, ISSN:0731-7085 DOI

Mignani R; Morrone A. (2009). Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?. KIDNEY INTERNATIONAL, pp. 1115-1116, ISSN:0085-2538 DOI

FILIPPI L; GOZZINI E; CAVICCHI C; MORRONE A; FIORINI P; DONZELLI G; MALVAGIA S; LA MARCA G. (2009). Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 2009, pp. 0-0, ISSN:0141-8955 DOI

Caciotti A; Di Rocco M; Filocamo M; Grossi S; Traverso F; d'Azzo A; Cavicchi C; Messeri A; Guerrini R; Zammarchi E; Donati MA; Morrone A. (2009). Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. JOURNAL OF NEUROLOGY, vol. 256, pp. 1911-1915, ISSN:0340-5354 DOI

Caciotti A; Donati MA; D'Azzo A; Salvioli R; Guerrini R; Zammarchi E; Morrone A (2009). The potential action of galactose as a “chemical chaperone”: increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol. 13 (2), pp. 160-164, ISSN:1090-3798 DOI

HOUTKOOPER RH; TURKENBURG M; POLL-THE BT; KARALL D; PÉREZ-CERDÁ C; MORRONE A; MALVAGIA S; WANDERS RJ; KULIK W; VAZ FM. (2009). The enigmatic role of tafazzin in cardiolipin metabolism.. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES, vol. 1788, pp. 2003-2014, ISSN:0005-2736 DOI

Caciotti A; Donati MA; Adami A; Guerrini R; Zammarchi E; Morrone A. (2008). Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.. EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, pp. 118-121, ISSN:0954-691X

Parini R; Rigoldi M; Santus F; Furlan F; De Lorenzo P; Valsecchi G; Concolino D; Strisciuglio P; Feriozzi S; Di Vito R; Ravaglia R; Ricci R; Morrone A. (2008). Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.. CLINICAL GENETICS, vol. 74(3), pp. 260-266, ISSN:0009-9163 DOI

L. Carraresi; R. Parini; C. Filoni; A. Caciotti; G. Sersale; S. Tomatsu; C. Orlando; E. Zammarchi; R. Guerrini; M.A. Donati; A. Morrone (2008). GALNS gene expression profiling in Morquio A patients' fibroblasts. CLINICA CHIMICA ACTA, vol. 397(1-2), pp. 72-76, ISSN:0009-8981 DOI

C. Filoni; A. Caciotti; L. Carraresi; M.A. Donati; R. Mignani; R. Parini; M. Filocamo; F. Soliani; L. Simi; R. Guerrini; E. Zammarchi; A. Morrone (2008). Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.. EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 16(11), pp. 1311-1317, ISSN:1018-4813 DOI

E. Zammarchi, MA Donati; A Morrone (2007). Errori Congeniti del Metabolismo;. In: G. Neri, M. Genuardi. Genica Umana e Medica, pp. 184-199, Milano: Elsevier Masson.

Malvagia S; Papi L; Morrone A; Donati MA; Ciani F; Pasquini E; la Marca G; Scholte HR; Genuardi M; Zammarchi E. (2007). Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16. ANNALS OF HUMAN GENETICS, vol. 71, pp. 705-712, ISSN:0003-4800 DOI

Caciotti A; Donati MA; Procopio E; Filocamo M; Kleijer W; Wuyts W; Blaumeiser B; d'Azzo A; Simi L; Orlando C; McKenzie F; Fiumara A; Zammarchi E; Morrone A. (2007). GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.. HUMAN MUTATION, vol. 28, pp. 204-204, ISSN:1059-7794 DOI

FERIOZZI S; SANZ TORRE E; RANALLI T V; CARDELLO P; A. MORRONE; ANCARANI E (2007). A diagnosis of Fabry gastrointestinal disease by chance: a case report.. EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, vol. 19(2):, pp. 163-165, ISSN:0954-691X, Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320: DOI

LEE BY; HAN JA; IM JS; A. MORRONE; JOHUNG K; GOODWIN EC; KLEIJER WJ; DIMAIO D; HWANG ES (2006). Senescence-associated beta-galactosidase is lysosomal beta-galactosidase.. AGING CELL, vol. 5 (2), pp. 187-195, ISSN:1474-9718 DOI

Donati MA; Malvagia S; Pasquini E; Morrone A; La Marca G; Garavaglia B; Toniolo D; Zammarchi E. (2006). Barth syndrome presenting with acute metabolic decompensation in the neonatal period.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 29, pp. 684-684, ISSN:0141-8955 DOI

C. CAVICCHI C; DONATI MA; FUNGHINI S; LA MARCA G; MALVAGIA S; CIANI F; POGGI GM; PASQUINI E; ZAMMARCHI E; A. MORRONE (2006). Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.. CLINICAL GENETICS, vol. 69, pp. 72-76, ISSN:0009-9163 DOI

BURLINA AB; PEDUTO A; PALMA AD; BELLIZZI A; SPERLI D; A. MORRONE; BURLINA AP (2006). An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 29 (1), pp. 179-181, ISSN:0141-8955, Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254: DOI

I. Sinigerska ; D. Chandler; V. Vaghjiani; I. Hassanova; R. Gooding; A. Morrone; I. Kremensky; L. Kalaydjieva (2006). Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population. MOLECULAR GENETICS AND METABOLISM, vol. 2, pp. 93-95, ISSN:1096-7192 DOI

Drousiotou A; Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; d Azzo A. (2005). Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.. HUMAN GENETICS, pp. 542-542, ISSN:0340-6717

A. CACIOTTI; M.A.DONATI; A.BONEH; A.DAZZO; A.FEDERICO; R.PARINI; D.ANTUZZI; T.BARDELLI; D.NOSI; V.KIMONIS; E.ZAMMARCHI; A. MORRONE (2005). Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients. HUMAN MUTATION, vol. 25, pp. 285-292, ISSN:1059-7794 DOI

A. Caciotti;M. A. Donati;A. Boneh;A. d'Azzo;A. Federico;R. Parini;D. Antuzzi;T. Bardelli;D. Nosi;V. Kimonis;E. Zammarchi;A. Morrone (2005). Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.. HUMAN MUTATION, vol. 25, pp. 285-292, ISSN:1098-1004 DOI Accesso ONLINE all'editore

A CACIOTTI; M A DONATI; T BARDELLI; A DAZZO; G MASSAI; L LUCIANI; E ZAMMARCHI; A. MORRONE (2005). Primary and secondary elastin binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.. THE AMERICAN JOURNAL OF PATHOLOGY, vol. 167(6), pp. 1689-1698, ISSN:0002-9440 DOI

S. FUNGHINI; M. DONATI; A. MORRONE; E. PASQUINI; E. ZAMMARCHI (2005). Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 28 (5), pp. 801-802, ISSN:0141-8955

Funghini S; Morrone A; Pasquini E; Zammarchi E; Donati MA. (2005). Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 28, pp. 801-802, ISSN:0141-8955 DOI

Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA. (2005). First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.. PRENATAL DIAGNOSIS, vol. 25, pp. 1117-1119, ISSN:0197-3851 DOI

Cavicchi C; Donati MA; Pasquini E; Poggi GM; Dionisi-Vici C; Parini R; Zammarchi E; Morrone A. (2005). Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 28 (6), pp. 1175-1178, ISSN:0141-8955 DOI

GEORGIOU T; STYLIANIDOU G; ANASTASIADOU V; CACIOTTI A; CAMPOS Y; ZAMMARCHI E; A. MORRONE; D'AZZO A; DROUSIOTOU A (2005). The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village.. GENETIC TESTING, vol. 9, pp. 126-132, ISSN:1090-6576 DOI

Ricci R; Castorina M; Di Lillo M; Antuzzi D; Frustaci A; Parini R; Menni F; Furlan F; Burlina A; Burlina A; Catuogno S; Gabrielli O; Burattini I; Borsini W; Buchner S; Ferriozzi S; Spisni C; De Vito R; Di Rocco M; Aricò M; Pistone G; Bongiorno AM; Morrone A; Cavicchi C; Zammarchi E. (2004). Fabry disease in Italy: first epidemiologic and collaborative study. ANNALI ITALIANI DI MEDICINA INTERNA, pp. 269-275, ISSN:0393-9340

GEORGIOU T; DROUSIOTOU A; CAMPOS Y; CACIOTTI A; SZTRIHA L; GURURAJ A; OZAND P; E. ZAMMARCHI; MORRONE A; D'AZZO A (2004). Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.. HUMAN MUTATION, vol. 24(4), pp. 0-0, ISSN:1059-7794 DOI

S. MALVAGIA; A. MORRONE; A. CACIOTTI; T. BARDELLI; A. DAZZO; G. ANCORA; E. ZAMMARCHI; M. A. DONATI (2004). New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.. MOLECULAR GENETICS AND METABOLISM, vol. 82, pp. 48-55, ISSN:1096-7192

Donati M.A.; Caciotti A.; Bardelli T.; Dani C.; D'Azzo A.; Morrone A.; Zammarchi E. (2003). Congenital sialidosis - from hydrops fetalis to hydrocephalus. THE ITALIAN JOURNAL OF PEDIATRICS, pp. 404-410, ISSN:1824-7288

CACIOTTI A; BARDELLI T; CUNNINGHAM J; D'AZZO A; E. ZAMMARCHI; MORRONE A (2003). Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.. HUMAN GENETICS, vol. 113, pp. 44-50, ISSN:0340-6717, Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229:

CACIOTTI A; A. MORRONE; DOMENICI R; DONATI M.A.; ZAMMARCHI E (2003). Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis.. MUSCLE & NERVE, vol. 27, pp. 165-169, ISSN:0148-639X

MALVAGIA S; G. POGGI; PASQUINI E.; DONATI M.A.; PELA I; MORRONE A; ZAMMARCHI E (2003). THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT.. PEDIATRIC RESEARCH, vol. 54, pp. 635-640, ISSN:0031-3998

la Marca G; Malvagia S; Donati MA; Morrone A; Pasquini E; Zammarchi E (2003). Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.. RAPID COMMUNICATIONS IN MASS SPECTROMETRY, vol. 17(23), pp. 2688-2692, ISSN:0951-4198

A. MORRONE; C. CAVICCHI; T. BARDELLI; D. ANTUZZI; R. PARINI; M. DI ROCCO; S. FERIOZZI; O. GABRIELLI; R. BARONE; G. PISTONE; C. SPISNI; R. RICCI; E. ZAMMARCHI (2003). Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. JOURNAL OF MEDICAL GENETICS, vol. 40, pp. 103-103, ISSN:0022-2593

FUNGHINI S; DONATI MA; PASQUINI E; ZAMMARCHI E; A. MORRONE (2003). Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.. HUMAN MUTATION, vol. 22, pp. 340-341, ISSN:1059-7794

BISANZI S; MORRONE A; DONATI MA; PASQUINI E; SPADA M; STRISCIUGLIO P; PARENTI G; G PARINI R; PAPADIA F; E. ZAMMARCHI (2002). Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.. MOLECULAR GENETICS AND METABOLISM, vol. 76(2), pp. 137-144, ISSN:1096-7192, Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445:

Morrone A.; Cavicchi C.; (2002). Mutation analysis and X-inactivation studies in the galactosidase A gene. AMERICAN JOURNAL OF HUMAN GENETICS, pp. S421-S421, ISSN:0002-9297

BARDELLI T; DONATI MA; GASPERINI S; CIANI F; BELLI F; BLAU N; MORRONE A; E. ZAMMARCHI (2002). Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia.. MOLECULAR GENETICS AND METABOLISM, vol. 77(3), pp. 260-266, ISSN:1096-7192, Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445:

A. MORRONE; S. MALVAGIA; MA. DONATI; S. FUNGHINI; F.CIANI; I. PELA; A. BONEH; H. PETERS; E. PASQUINI; E. ZAMMARCHI (2002). CLINICAL FINDINGS AND BIOCHEMICAL AND MOLECULAR ANALYSIS OF FOUR PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 111(1), pp. 10-18, ISSN:0148-7299

FUNGHINI S; DONATI MA; PASQUINI E; GASPERINI S; CIANI F; MORRONE A; E. ZAMMARCHI (2002). Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.. JOURNAL OF INHERITED METABOLIC DISEASE, vol. 25(4), pp. 328-330, ISSN:0141-8955, Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254:

S. FUNGHINI; E. PASQUINI; M. DONATI; A. MORRONE; E. ZAMMARCHI; M. CAPPELLINI; C. FONDA (2001). 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.. MOLECULAR GENETICS AND METABOLISM, vol. 73, pp. 268-275, ISSN:1096-7192

Cavicchi C.; Morrone A.; (2001). Genotype-phenotype correlations in methylmalonyl-CoA mutase deficiency. AMERICAN JOURNAL OF HUMAN GENETICS, pp. 648-648, ISSN:0002-9297

MORRONE A; BARDELLI T; DONATI MA; GIORGI M; DI ROCCO M; GATTI R; PARINI R; RICCI G; TADDEUCCI A; D'AZZO E; E. ZAMMARCHI (2000). ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.. HUMAN MUTATION, vol. 15, pp. 354-366, ISSN:1059-7794

PORFIRIO B; CHIARELLI I; GRAZIANO C; MANNONI A; MORRONE A; E. ZAMMARCHI; DE BERNABE' DB; DE CORDOBA S R (2000). Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene. JOURNAL OF MEDICAL GENETICS, vol. 37, pp. 309-312, ISSN:0022-2593

M. GIORGI; A. MORRONE; MA. DONATI; F. CIANI; T. BARDELLI; G. BIASUCCI; E. ZAMMARCHI (2000). Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutation. HUMAN MUTATION, vol. 15, pp. 380-381, ISSN:1059-7794

A. MORRONE; T. BARDELLI; A.CACIOTTI; M.A.DONATI; G. DE GREGORIO; A. DAZZO; E. ZAMMARCHI (1999). “Infantile GM1-gangliosidosis: new mutations in the b-galactosidase gene identified in two patients with cardiomyopathy”.. In: American Society of Human Genetics October 19-23 President of the meeting: Uta Fancke, San Francisco, CA, October 19-23, cell press, vol. Am J Hum Gen 65S:, pp. A 481, 2736-A 481, 2736.

MORRONE A; E. ZAMMARCHI; DONATI MA; SCHACHERI PC; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP (1997). Asymptomatic dystrophinopathy. AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 69, pp. 261-267, ISSN:0148-7299

Morrone A.; Bardelli T.; Donati M.A.; (1997). Identification of new mutations in six Italian patients affected by a variant form of infantile GM1-gangliosidosis with severe cardiomyopathy.. AMERICAN JOURNAL OF HUMAN GENETICS, pp. A258-A258, ISSN:0002-9297

A. MORRONE; E. PEGORARO; C. ANGELINI; E. ZAMMARCHI; G. MARCONI; E.P. HOFFMAN (1997). RNA Metabolism in Myotonic Dystrophy. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulinreceptor RNA and protein consistent with abnormal insulin resistance.. THE JOURNAL OF CLINICAL INVESTIGATION, vol. 99(7), pp. 1691-1698, ISSN:0021-9738 DOI

Zhou XY; van der Spoel A; Rottier R; Hale G; Willemsen R; Berry GT;Strisciuglio P; Morrone A; Zammarchi E; Andria G; d'Azzo A. (1996). MOLECULAR AND BIOCHEMICAL ANALYSIS OF PROTECTIVE PROTEIN/CATHEPSIN A MUTATIONS: CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS.. HUMAN MOLECULAR GENETICS, vol. 5, pp. 1977-1987, ISSN:0964-6906

E. ZAMMARCHI; M. A. DONATI; A. MORRONE; G. DONZELLI; X.Y. ZHOU; A. DAZZO (1996). Early-infantile galactosyalidosis: clinical, biochemical, and molecular observations in a new case. AMERICAN JOURNAL OF MEDICAL GENETICS, vol. 64, pp. 453-458, ISSN:0148-7299

Hoffman EP; Morrone A (1995). Making Sense of Myotonic Dystrophy. Annual Genetics Meeting: Some Puzzles, Some Answers. SCIENCE, vol. 270, pp. 1120-1120, ISSN:0036-8075

A. MORRONE; E. PEGORARO; E. ZAMMARCHI; E. HOFFMAN; A. FIDZIANSKA; B. RYNIEWICZ; A. ILNICKA (1995). An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy.. NEUROPEDIATRICS, vol. 26, pp. 163-167, ISSN:0174-304X DOI

E. ZAMMARCHI; M.A. DONATI; L. FILIPPI; A. MORRONE; T. REPETTO; G. MASCOLO; L. COMELLINI (1995). Ipertransaminasemia e difetto di ornitinatranscarbamilasi.. RIVISTA ITALIANA DI PEDIATRIA, vol. 21, pp. 82-87, ISSN:0392-5161

A. MORRONE; H. MORREAU; X.Y. ZHOU; E. ZAMMARCHI; W.J. KLEIJER; H. GALJAARD; A. D'AZZO (1994). Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis.. HUMAN MUTATION, vol. 3 (2), pp. 112-120, ISSN:1059-7794, John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551:

A. MORRONE; H. MORREAU; X.Y. ZHOU; E.ZAMMARCHI; W.J. KLEIJER; H. GALJAARD; A. D'AZZO; ABERRANTLY SPLICED BGALACTOSIDASE MRNA WITH TWENTY NUCLEOTIDE INTRONIC INSERTION CAUSES AN INFANTILE FORM OF GMGANGLIOSIDOSIS. IN STRUCTURAL AND FUNCTIONAL ANALYSIS OF LYSOSOMAL BGALACTOSIDASE AND ITS RELATION TO THE PROTECTIVEPROTEIN. (1992). H. Morreau phD thesis- Erasmus University- Rotterdam Holland. In: H. MORREAU. LYSOSOMAL BETA GALACTOSIDASE, pp. 61-70, AMSTERDAM: Morrou.

Amelia MORRONE

Biography

Amelia Morrone is Associate Professor at the Paediatric Neurologic Unit of the University of Florence, Italy. She is also the Director of the Molecular and Cell Biology Unit at the Meyer Children’s Hospital in Florence.

She obtained her Bachelor of Science degree in Biology at the University of Florence.

She received her PhD in Neurometabolic Science at the University of Florence and has specialized in Medical Genetics as well as in Biochemical and Clinical Biochemistry.

She worked as a PhD student with Dr. Sandra D'Azzo (Rotterdam, Netherlands) and Dr. Eric P. Hoffman at the Department of Molecular Genetics and Biochemistry, Pittsburgh (PA, USA).

She collaborates with various National and International Centres on research projects in the field of Inborn Errors of Metabolism including LSDs.

She is a member of the European Working Group on Lysosomal Disease, the Society for the Study of Inborn Errors of Metabolism, the Italian Society of Human Genetics and the Italian Society of Metabolic Disorders

.

Amelia MORRONE

Curriculum

First name/Surname	Amelia Morrone
Nationality	Italian
ORCID	https://orcid.org/0000-0003-2890-8179
Position	Associate Professor (PA), University of Florence, Italy
Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy *Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy; Viale Pieraccini n. 24, 50139 Firenze
0039 055 5662543 0039 339 330 4691
* amelia.morrone@unifi.it; **amelia.morrone@meyer.it;
https://www.unifi.it/p-doc2-2021-0-A-2b333b2c3728-0.html

Education and training

2002	She completed a Specialization in Biochemistry and Clinical Chemistry (cum laude), University of Florence, Florence, Italy
1997	She completed a Specialization in Medical Genetics (cum laude) University of Florence, Florence, Italy
1994	PhD in Neurometabolic Science (110/110), Department of Paediatrics, University of Florence, Italy
1987-1989	Post graduate course: “Biological Methods for Laboratory Research” University La Sapienza Rome and Training Program in Chemical, Clinical and Microbiological analysis at local Hospital in San Giovanni Valdarno, Arezzo, Italy
1987	Degree in Biological Science (110/110) University of Florence, Florence, Italy

WORK EXPERIENCE

November 2015-present	Associate Professor (PA) of Paediatrics MED/38
	University of Florence, Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA),
	▪ Head of laboratory of Molecular Genetics of Neurometabolic diseases, Department of Neuroscience and Medical Genetics, Meyer Children’s Hospital, IRCCS, Florence Research on molecular and cell biology characterization of lysosomal storage diseases and neurometabolic disorders.
November 2010-October 2015	Senior Researcher/Assistant Professor
November 2010-October 2015	at the University of Florence and Head of the Laboratory for Molecular and Cell Biology of Neurologic and Metabolic Disorders, Pediatrics Neurology Unit, Meyer Children's Hospital of Florence
2001-November 2010	Researcher Assistant Professor
2001-November 2010	at the Metabolic and Muscular Unit/ Laboratory of Molecular and Cell Biology of the University of Florence
1997-2001	Biologist at the Dept of Paediatrics, University of Florence, Florence, Italy
1995-2001	Postdoctoral fellow/Research Assistant/ Biologist
1995-2001	In E. Zammarchi’s Neurometabolic Laboratory, Dept of Pediatrics, University of Florence, Italy
1994-1995	Postdoctoral fellow
1994-1995	In E.P. Hoffman’s Laboratory, Dept. of Molecular Genetics and Biochemistry, Pittsburgh (USA)
1991-1993 1989-1991	PhD Student /Postdoctoral fellow in S. d’Azzo Laboratory, “Erasmus- University” Department of Cell Biology, Rotterdam (NL)
1991-1993 1989-1991	PhD Student in Neuroscience At Department of Paediatrics, University of Florence, Florence, Italy

WORK ACTIVITIES

Supervisory Ph.D. Committee Memberships:

- 2004-2010 DOT330475 School for Post Graduate Research in Applied Neurology, University of Siena

- 2007-2009 DOT 310199 Neuroscience, University of Florence

- 2010-2012 DOT1010980 Neuroscience and Psychology, University of Florence

- 2012 DOT1010980 Neuroscience, University of Florence

- 2012 to present DOT13Q93SS Tuscany PhD in Neuroscience, Tuscany Region Pegaso Project University of Siena, Pisa, and Florence

Teaching activities at the University of Florence, Florence Italy

-Since 2016 Degree Courses in Physiotherapy, Medical School, Department of Human Health, University of Florence, Florence, Italy.

- Since 2010 Advanced Courses in Diagnostics: "Clinical, Biochemical and Molecular Genetic aspects of Inherited Inborn Errors of Metabolism" for trainee doctors specializing in:

- General and specialized pediatrics

- Medical genetics

- Biochemistry and Clinical Chemistry

- Childhood Neuropsychiatry

- Since 2020 course "Molecular Diagnosis and Inborn Errors of Metabolism" for students studying for an Interfaculty Degree in Biotechnology

https://www.unifi.it/p-doc2-0-0-A-3f2a3d30352c29.html

From 2021 to 2030,

National Scientific Qualification ("Abilitazione Scientifica Nazionale") as full professor in:

- O6 A1: Medical Genetics (2021)

- 06 G1: Paediatrics (2021)

- 05 E1: Biochemistry and Clinical Biochemistry (2021)

Research areas:

Clinical Genetics, Biochemistry, Molecular Biology, Cell Biology, and characterization of normal and mutant genes in neurometabolic diseases

Main domain of research:

During the last 20 years, under my supervision in the laboratory of molecular genetics of neurometabolic disorders, we have developed a comprehensive panel of biochemical and genetic methods for the diagnosis of metabolic disorders in Italy.

Besides diagnostic work, my extensive experience in neurometabolic disorder diagnosis pioneered several projects focused on LSDs, the urea cycle, organic acidurias, deep intronic mutation studies, and the validation of new genetic risk factors and epigenetic factors. The projects mainly arose from the study of clinical cases. The diagnosis of Fabry disease, the relevance of deep intronic mutations, and functional studies have been carried out (Filoni et al., 2008; 2010; Ferri et al., 2016; 2018). Over the past twenty years, the question of how a single gene, GLB1, can cause two different lysosomal storage diseases, GM1 gangliosidosis and Morquio syndrome, has been a constant focus of our research (e.g., Morrone et al. 2000; 2014a; 2014b; Caciotti et al. 2003, 2005, 2007, 2009, 2011; 2013, 2018, 2021; Tonin et al. 2019, 2019). Synthesis and molecular studies of small molecules (chaperons) for the potential treatment of LSDs have also been carried out (e.g., Pa Parmiggiani 2015, Clemente 2020, 2022, 2023, Capitini 2022, Davighi 2024).

Cobalamin Cblc disorder due to MMACHC mono- or bi-allelic MMACHC epimutations and PRDX1 gene-related epi-cblc disease have also been a focus of our research (e.g., Cavicchi 2021, Oussalah 2022).

In current projects, I coordinate the unit and supervise genetic, cellular, and functional studies, iPSC reprogramming, and neuronal differentiation for neurometabolic diseases (e.g., Tonin 2023, 2024).

Member of advisory boards of:

- "International Society for Mannosidosis & Related Diseases, ISMRD",

- "Associazione Italiana Anderson- Fabry Onlus, AIAF"

- "Associazione Italiana of Gaucher, AIGF Onlus"

Membership of Scientific Societies:

- Society for the Study of Inborn Errors of Metabolism (SSIEM);

- European Study Group on Lysosomal Diseases (ESGLD);

- Italian Society for the Study of Hereditary Metabolic Diseases and Newborn Screening (SIMMESN)];

- Italian Society of Human Genetics (SIGU)

Patents

1. F. Cardona, C. Parmeggiani, C. Matassini, A. Goti, A. Morrone, S. Catarzi and G. D'Adamio, Università di Firenze, AOU Meyer. NUOVE PIRROLIDINE DENDRIMERICHE, LORO SINTESI E USO MEDICO ("New dendrimeric pyrrolidines, their synthesis and medical use"). Italian Patent. 102016000013155 (2016).

2. F. Cardona, C. Parmeggiani, C. Matassini, A. Goti, A. Morrone, S. Catarzi and G. D'Adamio, Università di Firenze, AOU Meyer. NEW DENDRIMERIC PYRROLIDINES, THEIR SYNTHESIS AND MEDICAL USE International Patent Application n. PCT/IB2017/050670" Application number: WO2017IB50670.20170208

Grants (Coordination and PI in research projects)

2023 - 2025 Head of Research Unit in the Research Project of Relevant National Interest (PRIN) 20228S5LWY "Characterization of the pathophysiology of three lysosomal storage diseases (Pompe disease, Morquio disease, and GM1 gangliosidosis) and identification of novel therapeutic targets". Morrone Research Unit Amount: 102.905,00.

2020 - 2025 Scientific Coordinator and Principal investigator of a grant funded by Regione Toscana (Bando Ricerca e Salute 2018) CUP G14I18000270002, titled: “Late onset Lysosomal Storage Disorders (LSDs) in the differential diagnosis of neurodegenerative diseases: development of new diagnostic procedures and focus on potential pharmacological chaperones (PCs), Acronym: LysoLate. Total amount: €576.000

2018-2019 AMMeC (Associazione Malattie Metaboliche Ereditarie Congenite)

Setting up and development of somatic iPSCs from biopsies of patients with Neurometabolic Diseases and subsequent functional genetic studies

2016-2018 AMMeC (Associazione Malattie Metaboliche Ereditarie Congenite)

Personalized NGS panel for Inborn Errors of Metabolism € 75.000

2014-2018 The Italian Ministry of Health (grant RF-2011-02347694) € 300.218 “Therapeutic correction of mis-spliced RNA transcripts and of protein conformation defects in Lysosomal Storage Disorders, (PI coordinator)

2012-2014 Funding 2007-2013 POR CRO FSE training projects: 60.000 Euro

Inborn Errors of Metabolism: biochemical and functional genetic characterization of new variants and definition of their pathogenicity status and possible responsiveness to therapeutic approaches of personalized medicine.

2011-2013 Genzyme Corporation: 31.000 Euro

"Lysosomal Storage Disorders: Genetics, Biochemical and functional studies"

2011-2012 AMMeC (Associazione Malattie Metaboliche Ereditarie Congenite) 20.000 Euro

"Genetic and functional studies of DNA/RNA and proteins in Inborn Errors of Metabolisms

2009-2011 Shire Human Genetic Therapies, Inc: 70.000 Euro

"Enhancement of enzyme activity in Sphingolipidosis diseases caused by conformational defects"

2009-2011 Actelion Pharmaceuticals Italia S.r.l.: 31.000 Euro

"Biochemical, Molecular and Cellular Functional studies in Lysosomal Storage Disorders"

2007-2011 Genzyme Corporation: 80.000 Euro

"Fabry disease: analysis of expression levels of mutant alpha galactosidase mRNAs and proteins" and Diagnostic Molecular and Functional analysis of GAA (Pompe Disease) and GBA (Gaucher Disease) genes

2004-2007 Genzyme Corporation: 35.000 Euro

"Biochemical and genetic studies on lysosomal storage disorders: Fabry disease "

2006-2008 PI of the local Unit PRIN project: 22.400 Euro

"GALNS gene expression profiling and study of the role of keratan sulfate on elastin binding protein in Morquio patients' fibroblasts"

2004-2006 PI of the local Unit PRIN project: 30.000 Euro

"Biochemical, Genetic and Molecular Studies of the Lysosomal Multienzyme Complex, the EBP-Receptor and New In Vitro Pharmacological Therapeutic Approach"

1999-2000 Telethon: 35.000 Euro

"Analysis of EBP and GLB1 proteins in GM1 gangliosidosis patients"

Invited Speaker

(a selection of invitations):

-2022 November 9-11 XII National Congress SIMMESN Presentation title: Molecular diagnosis of disorders with hyperammonemia, Bari, Italy

-2021 Dicember 2-4 XI National Congress SIMMESN Presentation title: Role of molecular biology techniques in newborn screening programs: from ID to SMA, Bologna, Italy

-2020 February 21 Scientific conference. The Mucopolysaccharidosis: Knowing to Recognize, Take Care and Treat. Presentation title " Biochemistry and Molecular diagnosis " Meyer Children’s Hospital, Florence, Italy

-2019 October 22nd – 25th X National Congress SIMMESN “Inborn Errors of Metabolism: from biological bases to advanced therapies. Presentation title: The role of the molecular biologist. Torino, Italy

-2019 April 11^th -12^th, Kiev, Ukraine, Scientific-practical conference with international participation "Recent Achievements of Human Genetics. Orphan Metabolic Diseases. Presentation title: “MPS disorders: from biochemical to molecular diagnosis and challenging cases”

-2018 November 21-23 Catania, Italy, IX congress Nazionale SIMMESN, Malattie Metaboliche Ereditarie: tra presente e futuro. Presentation title: Diagnosi di CDG e altre Malattie Metaboliche mediante NGS.

-2018 March 15th-17th Advances in Paediatric Heart Failure, Congenital Disease & Cardiomyopaties, Florence, Italy. Presentation title: Inborn Errors of Metabolisms and Mitochondrial diseases.

2017 November 1st - 4th, 5th Glycoproteins International Conference, Presentation title: Molecular diagnosis of Glycoproteinoses. Rome Hotel A. Roma Lifestyle

2017 June 3rd, 1st Belgrade, Serbia, Symposium on Inherited Genetic Disorders MPS 2017. Presentation title: MPS Disorders: from Biochemical to Molecular Diagnosis and Challenging Cases.

2017 March 28th Gene, Genomes & Pediatric Disease Affinity Group (GGPD) Monthly Seminar, Children's Hospital of Philadelphia (CHOP) Research Institute. Presentation title: Inborn Errors of Metabolism: from Clinical to Biochemical and Molecular Diagnosis, challenging cases: from diagnosis to research.

2016 Sunday 29th - Tuesday 31st May: MPS Masterclass, Dubai, The United Arab Emirates. Presentation title: Laboratory diagnosis of MPS disorders.

2015 May 29th-5th June Presentation to Special Pathology Grand Rounds at King Faisal Specialist Hospital and Research Center in Riyadh Saudi Arabia. Presentation title: Lysosomal Storage Diseases (LSDS): biochemical-molecular diagnostic tools, research, and challenges

ADDITIONAL INFORMATION

PERSONAL SKILLS AND COMPETENCES

She has always collaborated with multidisciplinary groups of prestigious national and international universities, as evidenced by the more than 150 published scientific papers, for most of which she was the corresponding author and/or research coordinator.

Contribution to science

Scopus Author Id: 57203479442; ORCID ID: 0000-0003-2890-8179; RESEARCH ID:AAB-6766-2019.

153 papers (Scopus, July 2023) in international, peer-reviewed journals.

H index: 30

Total number of citations= 3,625 Scopus

Publications

Most recent and relevant publications:

- Annibalini G, Di Patria L, Valli G, Bocconcelli M, Saltarelli R, Ferri L, Barberi L, Fanelli F, Morrone A, Barone R, Guerrini R, Musarò A, Stocchi V, Barbieri E. Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition. FASEB J. 2024 Jul 15;38(13):e23797. doi: 10.1096/fj.202400213RR. PMID: 38963344.

- Olkhovych N, Pichkur N, Mytsyk N, Tonin R, Kormoz S, Hregul I, Samonenko N, Shklyarskaya T, Olkhovych V, Buryak O, Morrone A, Gorovenko N. The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine. JIMD Rep. 2024 May 14;65(4):272-279. doi: 10.1002/jmd2.12423. PMID: 38974612; PMCID: PMC11224496.

- Davighi MG, Clemente F, Andreasen ES, Nielsen MB, Matassini C, Goti A, Morrone A, Paoli P, Cardona F, Cacciarini M. Iminosugar-dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers. Chem Biodivers. 2024 Jun 7:e202401104. doi: 10.1002/cbdv.202401104. Epub ahead of print. PMID: 38847390.

- Tonin R, Feo F, Falliano S, Giunti L, Calamai M, Procopio E, Mari F, Sciruicchio V, Conti V, Fanelli I, Bambi F, Guerrini R, Morrone A. Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector. Stem Cell Res. 2024 Jun;77:103431. doi: 10.1016/j.scr.2024.103431. Epub 2024 May 3. PMID: 38703669.

- Romani I, Sarti C, Nencini P, Pracucci G, Zedde M, Cianci V, Nucera A, Moller J, Orsucci D, Toni D, Palumbo P, Casella C, Pinto V, Barbarini L, Bella R, Scoditti U, Ragno M, Mezzapesa DM, Tassi R, Volpi G, Diomedi M, Bigliardi G, Cavallini AM, Chiti A, Ricci S, Cecconi E, Linoli G, Sacco S, Rasura M, Giordano A, Bonetti B, Melis M, Cariddi LP, Dossi RC, Grisendi I, Aguglia U, Di Ruzza MR, Melis M, Sbardella E, Vista M, Valenti R, Musolino RF, Passarella B, Direnzo V, Pennisi G, Genovese A, Di Marzio F, Sgobio R, Acampa M, Nannucci S, Dagostino F, Dell'Acqua ML, Cuzzoni MG, Picchioni A, Calchetti B, Notturno F, Di Lisi F, Forlivesi S, Delodovici ML, Buechner SC, Biagini S, Accavone D, Manna R, Morrone A, Inzitari D. Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry. J Neurol Sci. 2024 Feb 15;457:122905. doi: 10.1016/j.jns.2024.122905. Epub 2024 Jan 24. PMID: 38295534.

- Ceni C, Clemente F, Mangiavacchi F, Matassini C, Tonin R, Caciotti A, Feo F, Coviello D, Morrone A, Cardona F, Calamai M. Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction. Molecules. 2024 Jan 17;29(2):453. doi: 10.3390/molecules29020453. PMID: 38257371; PMCID: PMC10818339.

- Tonin R, Feo F, Falliano S, Ferri L, Giunti L, Calamai M, Procopio E, Mari F, Conti V, Fanelli I, Bambi F, Guerrini R, Morrone A. Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector. Stem Cell Res. 2023 Dec;73:103235. doi: 10.1016/j.scr.2023.103235. Epub 2023 Oct 21. PMID: 38323760.

Buco F, Matassini C, Vanni C, Clemente F, Paoli P, Carozzini C, Beni A, Cardona F, Goti A, Moya SE, Ortore MG, Andreozzi P, Morrone A, Marradi M. Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS). Org Biomol Chem. 2023 Dec 6;21(47):9362-9371. doi: 10.1039/d3ob01466e. PMID: 37975191.

- Davighi MG, Matassini C, Clemente F, Paoli P, Morrone A, Cacciarini M, Goti A, Cardona F. pH-Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher-Related L444P/L444P Mutations in GBA1 Gene. Chembiochem. 2024 Jan 2;25(1):e202300730. doi: 10.1002/cbic.202300730. Epub 2023 Nov 13. PMID: 37877519.

- Fiumara A, Sapuppo A, Ferri L, Arena A, Prato A, Garozzo D, Sturiale L, Morrone A, Barone R. Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation. Eur J Med Genet. 2023 Mar;66(3):104709. doi: 10.1016/j.ejmg.2023.104709. Epub 2023 Jan 24. PMID: 36706865.

- Clemente F, Davighi MG, Matassini C, Cardona F, Goti A, Morrone A, Paoli P, Tejero T, Merino P, Cacciarini M. Light-Triggered Control of Glucocerebrosidase Inhibitors: Towards Photoswitchable Pharmacological Chaperones. Chemistry. 2023 Apr 3;29(19):e202203841. doi: 10.1002/chem.202203841. Epub 2023 Mar 1. PMID: 36598148.

- Chiesa I, De Maria C, Tonin R, Ripanti F, Ceccarini MR, Salvatori C, Mussolin L, Paciaroni A, Petrillo C, Cesprini E, Feo F, Calamai M, Morrone A, Morabito A, Beccari T, Valentini L. Biocompatible and Printable Ionotronic Sensing Materials Based on Silk Fibroin and Soluble Plant-Derived Polyphenols. ACS Omega. 2022 Nov 28;7(48):43729-43737. doi: 10.1021/acsomega.2c04729. PMID: 36506141; PMCID: PMC9730456.

- Capitini C, Feo F, Caciotti A, Tonin R, Lulli M, Coviello D, Guerrini R, Calamai M, Morrone A. Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C. Biomedicines. 2022 Aug 12;10(8):1962. doi: 10.3390/biomedicines10081962. PMID: 36009508; PMCID: PMC9405762.

- Clemente F, Martínez-Bailén M, Matassini C, Morrone A, Falliano S, Caciotti A, Paoli P, Goti A, Cardona F. Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis. Molecules. 2022 Jun 22;27(13):4008. doi: 10.3390/molecules27134008. PMID: 35807262; PMCID: PMC9268699.

- Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B₁₂. Clin Epigenetics. 2022 Apr 19;14(1):52. doi: 10.1186/s13148-022-01271-1. PMID: 35440018; PMCID: PMC9020039.

- Chiesa I, De Maria C, Ceccarini MR, Mussolin L, Coletta R, Morabito A, Tonin R, Calamai M, Morrone A, Beccari T, Valentini L. 3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for In Vivo Monitoring on Soft Tissues. ACS Appl Mater Interfaces. 2022 May 4;14(17):19253-19264. doi: 10.1021/acsami.2c04078. Epub 2022 Apr 19. PMID: 35438960; PMCID: PMC9073835.

- Cuadros Gamboa AL, Benfante R, Nizzardo M, Bachetti T, Pelucchi P, Melzi V, Arzilli C, Peruzzi M, Reinbold RA, Cardani S, Morrone A, Guerrini R, Zucchi I, Corti S, Ceccherini I, Piumelli R, Nassi N, Di Lascio S, Fornasari D. Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene. Stem Cell Res. 2022 May;61:102781. doi: 10.1016/j.scr.2022.102781. Epub 2022 Apr 7. PMID: 35421844.

- Vanni C, Clemente F, Paoli P, Morrone A, Matassini C, Goti A, Cardona F. 3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers. Chembiochem. 2022 Jun 3;23(11):e202200077. doi: 10.1002/cbic.202200077. Epub 2022 Apr 7. PMID: 35322924; PMCID: PMC9400994.

- Di Patria L, Annibalini G, Morrone A, Ferri L, Saltarelli R, Galluzzi L, Diotallevi A, Bocconcelli M, Donati MA, Barone R, Guerrini R, Jaeken J, Stocchi V, Barbieri E. Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation. Cell Mol Life Sci. 2022 Feb 24;79(3):150. doi: 10.1007/s00018-022-04180-x. PMID: 35211808; PMCID: PMC8873121.

- Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. PMID: 34215320; PMCID: PMC8254308.

- Caciotti A, Cellai L, Tonin R, Mei D, Procopio E, Di Rocco M, Andaloro A, Antuzzi D, Rampazzo A, Rigoldi M, Forni G, la Marca G, Guerrini R, Morrone A. Morquio B disease: From pathophysiology towards diagnosis. Mol Genet Metab. 2021 Mar;132(3):180-188. doi: 10.1016/j.ymgme.2021.01.008. PMID: 33558080.

- Clemente F, Matassini C, Faggi C, Giachetti S, Cresti C, Morrone A, Paoli P, Goti A, Martínez-Bailén M, Cardona F. Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning. Bioorg Chem. 2020 May; 98:103740. doi: 10.1016/j.bioorg.2020.103740. Epub 2020 Mar 9. PMID: 32200326.

- Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A. Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content. Sci Rep. 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5. PMID: 31776384; PMCID: PMC6881353.

- Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou I, Michelakakis H, Fioravanti A, d'Azzo A, Guerrini R, Morrone A. Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. Mol Genet Metab. 2020 Feb;129(2):47-58. doi: 10.1016/j.ymgme.2019.09.005. Epub 2019 Oct 31. PMID: 31711734.

- Tonin R, Catarzi S, Caciotti A, Procopio E, Marini C, Guerrini R, Morrone A. Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. J Neurol. 2019 Jan;266(1):92-101. doi: 10.1007/s00415-018-9084-4. Epub 2018 Oct 31. PMID: 30382391; PMCID: PMC6342868.

- Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP. A genetic modifier of symptom onset in Pompe disease. EBioMedicine. 2019 May;43:553-561. doi: 10.1016/j.ebiom.2019.03.048. Epub 2019 Mar 25. PMID: 30922962; PMCID: PMC6562017.

- Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease. BMC Med Genet. 2018 Oct 11;19(1):183. doi: 10.1186/s12881-018-0694-6. PMID: 30305043; PMCID: PMC6180571.

- Ferri L, Malesci D, Fioravanti A, Bagordo G, Filippini A, Ficcadenti A, Manna R, Antuzzi D, Verrecchia E, Donati I, Mignani R, Cavicchi C, Guerrini R, Morrone A. Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ. Clin Chim Acta. 2018 Jun;481:25-33. doi: 10.1016/j.cca.2018.02.021. Epub 2018 Feb 21. PMID: 29476735.

- Ferri L, Covello G, Caciotti A, Guerrini R, Denti MA, Morrone A. Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations. Mol Ther Nucleic Acids. 2016 Oct 25;5(10):e380. doi: 10.1038/mtna.2016.88. PMID: 27779620; PMCID: PMC5095687.

- Parmeggiani C, Catarzi S, Matassini C, D'Adamio G, Morrone A, Goti A, Paoli P, Cardona F. Human Acid β-Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease. Chembiochem. 2015 Sep 21;16(14):2054-64. doi: 10.1002/cbic.201500292. PMID: 26376302.

- Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Erratum in: Mol Genet Metab. 2014 Nov;113(3):237. PMID: 24726177; PMCID: PMC4203673.

- Morrone A, Caciotti A, Atwood R, Davidson K, Du C, Francis-Lyon P, Harmatz P, Mealiffe M, Mooney S, Oron TR, Ryles A, Zawadzki KA, Miller N. Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database. Hum Mutat. 2014 Nov;35(11):1271-9. doi: 10.1002/humu.22635. Epub 2014 Sep 17. PMID: 25137622; PMCID: PMC4238747.

- Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A. Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. PMID: 23915561; PMCID: PMC3737020.

- Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. PMID: 21497194; PMCID: PMC3210552.

- Filoni C, Caciotti A, Carraresi L, Cavicchi C, Parini R, Antuzzi D, Zampetti A, Feriozzi S, Poisetti P, Garman SC, Guerrini R, Zammarchi E, Donati MA, Morrone A. Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta. 2010 Feb;1802(2):247-52. doi: 10.1016/j.bbadis.2009.11.003. Epub 2009 Nov 24. PMID: 19941952; PMCID: PMC3056268.

- Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A. GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. Hum Mutat. 2007 Feb;28(2):204. doi: 10.1002/humu.9475. PMID: 17221873.

- Caciotti A, Donati MA, Bardelli T, d'Azzo A, Massai G, Luciani L, Zammarchi E, Morrone A. Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. Am J Pathol. 2005 Dec;167(6):1689-98. doi: 10.1016/S0002-9440(10)61251-5. PMID: 16314480; PMCID: PMC1613190.

- Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat. 2005 Mar;25(3):285-92. doi: 10.1002/humu.20147. PMID: 15714521

- Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di Rocco M, Feriozzi S, Gabrielli O, Barone R, Pistone G, Spisni C, Ricci R, Zammarchi E. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet. 2003 Aug;40(8):e103. doi: 10.1136/jmg.40.8.e103. PMID: 12920095; PMCID: PMC1735554.

- Caciotti A, Bardelli T, Cunningham J, D'Azzo A, Zammarchi E, Morrone A. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Hum Genet. 2003 Jul;113(1):44-50. doi: 10.1007/s00439-003-0930-8. Epub 2003 Mar 19. PMID: 12644936.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat. 2000;15(4):354-66. doi: 10.1002/(SICI)1098-1004(200004)15:4<354:AID-HUMU8>3.0.CO;2-L. PMID: 10737981

Amelia MORRONE

Interest

Neurometabolic disorders: genetic, cellular, functional studies, iPSC reprogramming and neuronal differentiation.

I love animals, especially cats and dogs. I enjoy nature, architecture, art, and music.

Amelia MORRONE

Note

additional email: amelia.morrone@meyer.it

Area riservata