Article

Autism-associated PTCHD1 missense variants bind to the SNARE-associated protein, SNAPIN, but exhibit impaired subcellular trafficking

2024-03-02

Abstract excerpt

<h4>Background</h4> Patched domain-containing 1 ( 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 the current paucity of functional information, many PTCHD1 missense varian...

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Literature Corpus work: 59dc205f-c1ca-5a07-b1dd-131ff22d9b4b
DOI: 10.1101/2024.02.29.582618

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