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 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.
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)
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 .
email aggiuntiva: amelia.morrone@meyer.it
Amo gli animali, soprattutto gatti e cani. Mi piace la natura, l'architettura, l'arte e la musica.
Legenda
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
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
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
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
In E. Zammarchi’s Neurometabolic Laboratory, Dept of Pediatrics, University of Florence, Italy
1994-1995
Postdoctoral fellow
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)
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:
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).
- "International Society for Mannosidosis & Related Diseases, ISMRD",
- "Associazione Italiana Anderson- Fabry Onlus, AIAF"
- "Associazione Italiana of Gaucher, AIGF Onlus"
- 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)
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
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 11th -12th, 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
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.
additional email: amelia.morrone@meyer.it
