Associated Papers
The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.
Ung DC et al.
Neuroscience and Biobehavioral Reviews, 2025
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.
Pastore SF et al.
Biological Psychiatry Global Open Science, 2025
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.
Xie CTY et al.
Cells, 2024
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.
Farley KO et al.
Hgg Advances, 2024
38007613 (PubMed )
Supplement: mmc2.xlsx › Table_S2
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Pastore SF et al.
Genes, 2022
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa J et al.
Human Mutation, 2021
Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29790871 (PubMed )
Supplement: NIHMS940738-supplement-Table_S1.pdf
Select a paper to view details