Autism-associated PTCHD1 missense variants bind to the SNARE-associated protein, SNAPIN, but exhibit impaired subcellular trafficking
Stephen F. Pastore, Connie T. Y. Xie, Roya Derwish, Tahir Muhammad, Tereza BLÁHOVÁ, Sierra C. El-masri, Paul W. Frankland, Paul A. Hamel, John B. Vincent
The paper identifies a novel interaction between PTCHD1 and SNAPIN and shows that some missense variants impair subcellular trafficking without affecting binding.
Biological Psychiatry Global Open Science · Mar 22, 2025Peer-reviewedMolecular Biology