Allelic heterogeneity and abnormal vesicle recycling in

PLAA gene SNAREopathies de novo variants developmental regression neurodevelopmental disorders synaptic transmission

Journal

Frontiers in molecular neuroscience
ISSN: 1662-5099
Titre abrégé: Front Mol Neurosci
Pays: Switzerland
ID NLM: 101477914

Informations de publication

Date de publication:
2024
Historique:
received: 27 07 2023
accepted: 16 02 2024
medline: 23 4 2024
pubmed: 23 4 2024
entrez: 23 4 2024
Statut: epublish

Résumé

The human

Identifiants

DOI: 10.3389/fnmol.2024.1268013 PMID: 38650658 PMC: PMC11033462
pubmed: 38650658
doi: 10.3389/fnmol.2024.1268013
pmc: PMC11033462
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1268013

Informations de copyright

Copyright © 2024 Iacomino, Houerbi, Fortuna, Howe, Li, Scorrano, Riva, Cheng, Steiman, Peltekova, Yusuf, Baldassari, Tamburro, Scudieri, Musante, Di Ludovico, Guerrisi, Balagura, Corsello, Efthymiou, Murphy, Uva, Verrotti, Fiorillo, Delvecchio, Accogli, Elsabbagh, Houlden, Scherer, Striano, Zara, Chou and Salpietro.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Auteurs

Michele Iacomino (M)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Nadia Houerbi (N)

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.

Sara Fortuna (S)

Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy.

Jennifer Howe (J)

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

Shan Li (S)

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.

Giovanna Scorrano (G)

Department of Pediatrics, Sant'Annunziata Hospital, University "G. D'Annunzio", Chieti, Italy.
Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.

Antonella Riva (A)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

Kai-Wen Cheng (KW)

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.

Mandy Steiman (M)

Montreal Neurological Institute-Hospital, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.

Iskra Peltekova (I)

McGill University Health Centre, McGill University, Montreal, QC, Canada.

Afiqah Yusuf (A)

Montreal Neurological Institute-Hospital, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.

Simona Baldassari (S)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Serena Tamburro (S)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Paolo Scudieri (P)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

Ilaria Musante (I)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Armando Di Ludovico (A)

Department of Pediatrics, Sant'Annunziata Hospital, University "G. D'Annunzio", Chieti, Italy.

Sara Guerrisi (S)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Ganna Balagura (G)

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Antonio Corsello (A)

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

Stephanie Efthymiou (S)

Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.

David Murphy (D)

Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.

Paolo Uva (P)

Clinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Alberto Verrotti (A)

Department of Pediatrics, University of Perugia, Perugia, Italy.

Chiara Fiorillo (C)

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Maurizio Delvecchio (M)

Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.

Andrea Accogli (A)

Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.

Mayada Elsabbagh (M)

Montreal Neurological Institute-Hospital, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.

Henry Houlden (H)

Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.

Stephen W Scherer (SW)

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
McLaughlin Centre, University of Toronto, Toronto, ON, Canada.

Pasquale Striano (P)

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

Federico Zara (F)

Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

Tsui-Fen Chou (TF)

Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.
Proteome Exploration Laboratory, Beckman Institute, California Institute of Technology, Pasadena, CA, United States.

Vincenzo Salpietro (V)

Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.

Classifications MeSH