Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders

Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders

The human PLAA gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few families carrying biallelic PLAA variants were report...

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Bibliographic Details
Main Authors: Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Shan Li, Giovanna Scorrano, Antonella Riva, Kai-Wen Cheng, Mandy Steiman, Iskra Peltekova, Afiqah Yusuf, Simona Baldassari, Serena Tamburro, Paolo Scudieri, Ilaria Musante, Armando Di Ludovico, Sara Guerrisi, Ganna Balagura
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Molecular Neuroscience
Subjects:
PLAA gene
de novo variants
neurodevelopmental disorders
synaptic transmission
SNAREopathies
developmental regression
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2024.1268013/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2024.1268013/full

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