The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

De novo CLTC mutations underlie a spectrum of early-onset neurodevelopmental phenotypes having developmental delay/intellectual disability (ID), epilepsy, and movement disorders (MD) as major clinical features. CLTC encodes the widely expressed heavy polypeptide of clathrin, a major component of the...

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Detalles Bibliográficos
Autores principales: Pannone, Luca, Muto, Valentina, Nardecchia, Francesca, Di Rocco, Martina, Marchei, Emilia, Tosato, Federica, Petrini, Stefania, Onorato, Giada, Lanza, Enrico, Bertuccini, Lucia, Manti, Filippo, Folli, Viola, Galosi, Serena, Di Schiavi, Elia, Leuzzi, Vincenzo, Tartaglia, Marco, Martinelli, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264582/
https://www.ncbi.nlm.nih.gov/pubmed/37324589
http://dx.doi.org/10.3389/fnmol.2023.1170061

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