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

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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Main Authors: Luca Pannone, Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Federica Tosato, Stefania Petrini, Giada Onorato, Enrico Lanza, Lucia Bertuccini, Filippo Manti, Viola Folli, Serena Galosi, Elia Di Schiavi, Vincenzo Leuzzi, Marco Tartaglia, Simone Martinelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Molecular Neuroscience
Subjects:
CLTC
clathrin
synaptic vesicles
motor behavior
Caenorhabditis elegans
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1170061/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2023.1170061/full

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