PTCHD1

Publications

Chaudhry A et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clin Genet. 2015;88(3):224-233. PMID: 25131214.

Filges I et al. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clin Genet. 2011;79:79-85. PMID: 21091464

Halewa J et al. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. Hum Mutat. 2021;42:848–861. PMID: 33856728.

Hiltunen M et al. PTCHD1 Binds Cholesterol but Not Sonic Hedgehog, Suggesting a Distinct Cellular Function. Int J Mol Sci. 2023;24(3):2682. PMID: 3676900.

Ko SY et al. Ptchd1 exon3 truncating mutations recapitulate more clinically relevant autistic-like traits in mice. IBRO Rep. 2019;6:S346–S562.

Marshall CR et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82:477–488. PMID: 18252227.

Murakami Y et al. Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity/autism spectrum disorders: A potential new biological diagnostic marker. Sci Rep. 2019;9:13182. PMID: 31515500.

Nakajima M et al. Combinatorial Targeting of Distributed Forebrain Networks Reverses Noise Hypersensitivity in a Model of Autism Spectrum Disorder. Neuron. 2019;104:488–500. PMID: 31648899.

Noor A et al. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Sci Transl Med. 2: 49ra68, 2010. PMID: 20844286.

Pastore SF et al. PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene. Genes. 2022;13(3):527. PMID; 35328080.

Pinto D et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010;466:368–372. PMID: 20531469.

Tora D et al. Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. J. NeuroSci. 2017;37:11993–12005. PMID: 29118110.

Torrico B et al. Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. Eur J Hum Genet. 2015;23:1694–1701. PMID: 25782667.

Ung DC et al. Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse. Mol Psychiatry. 2018;23:1356–1367. PMID: 28416808.

Wells MF et al. Thalamic reticular impairment underlies attention deficit in  Ptchd1 Y/- mice. Nature. 2016;532:58-63. PMID: 27007844.

Whibley AC et al. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet. 2010;87:173–188. PMID: 20655035.