Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking
These data yield insights into the role of PTCHD1 in neurodevelopment and neurotransmission and suggest a neuropathological mechanism for missense variants. These findings provide a platform for diagnostic assay and VUS interpretation, allowing for clinical reclassification of these variants.
Authors
- Tahir Muhammad (ORCID: https://orcid.org/0000-0001-5819-1397)
- John B. Vincent (ORCID: https://orcid.org/0000-0003-0692-2519)
- Roya Derwish
- Connie T. Y. Xie
- Stephen F. Pastore (ORCID: https://orcid.org/0000-0002-1469-9487)
- Paul A. Hamel (ORCID: https://orcid.org/0000-0002-3844-8850)
- Paul W. Frankland (ORCID: https://orcid.org/0000-0002-1395-3586)
- Tereza Blahova
- Sierra C. El-masri
Institutions
- Centre for Addiction and Mental Health (CA)
- University of Toronto (CA)
- Hospital for Sick Children (CA)
Publication Details
- Journal
- Biological Psychiatry Global Open Science
- Published
- 2025-03-22
- DOI
- https://doi.org/10.1016/j.bpsgos.2025.100492
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.63