Molecular BiologyBiological Psychiatry Global Open SciencePeer-reviewed
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…·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.
2 citations