Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking

Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking

Background: PTCHD1 is a susceptibility gene for autism spectrum disorder and intellectual disability. Its function in brain development and neurotransmission remains elusive. Studies have sought to characterize PTCHD1 function by elucidating its neural network of interacting proteins. However, given...

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Bibliographic Details
Main Authors: Stephen F. Pastore, Connie T.Y. Xie, Roya Derwish, Tahir Muhammad, Tereza Blahova, Sierra C. El-masri, Paul W. Frankland, Paul A. Hamel, John B. Vincent
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:Biological Psychiatry Global Open Science
Subjects:
Autism spectrum disorder
Clinical missense variant
Intellectual disability
Protein-protein interaction
SNARE complex
Transmembrane protein trafficking
Online Access:http://www.sciencedirect.com/science/article/pii/S2667174325000461
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