Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2010 6
2011 4
2012 1
2014 2
2015 2
2016 2
2017 3
2018 1
2019 6
2020 6
2021 5
2022 4
2023 10
2024 9
2025 5
2026 8

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

62 results

Results by year

Filters applied: . Clear all
Page 1
The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders.
Ung DC, Martin S, Hérault Y, Laumonnier F. Ung DC, et al. Neurosci Biobehav Rev. 2025 Sep;176:106307. doi: 10.1016/j.neubiorev.2025.106307. Epub 2025 Jul 27. Neurosci Biobehav Rev. 2025. PMID: 40730316 Free article. Review.
Mutations and microdeletions in PTCHD1 have been associated with global developmental delays such as ID, ASD, and behavioral abnormalities. This review explores the neurodevelopmental functions of PTCHD1, particularly its position within the synaptic environment, fr …
Mutations and microdeletions in PTCHD1 have been associated with global developmental delays such as ID, ASD, and behavioral abnormal …
PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.
Pastore SF, Ko SY, Frankland PW, Hamel PA, Vincent JB. Pastore SF, et al. Genes (Basel). 2022 Mar 17;13(3):527. doi: 10.3390/genes13030527. Genes (Basel). 2022. PMID: 35328080 Free PMC article. Review.
This review outlines the identification and neurobiological characterization of two such genes located in Xp22.11, Patched domain-containing 1 (PTCHD1), and its antisense lncRNA PTCHD1-AS. Animal models of Ptchd1 disruption have recapitulated a subset of clin …
This review outlines the identification and neurobiological characterization of two such genes located in Xp22.11, Patched domain-containing …
Ptchd1 mediates opioid tolerance via cholesterol-dependent effects on mu-opioid receptor trafficking.
Maza N, Wang D, Kowalski C, Stoveken HM, Dao M, Sial OK, Giles AC, Grill B, Martemyanov KA. Maza N, et al. Nat Neurosci. 2022 Sep;25(9):1179-1190. doi: 10.1038/s41593-022-01135-0. Epub 2022 Aug 18. Nat Neurosci. 2022. PMID: 35982154 Free PMC article.
Here, we used a forward genetic screen in Caenorhabditis elegans for unbiased identification of genes regulating opioid tolerance which revealed a role for PTR-25/Ptchd1. We found that PTR-25/Ptchd1 controls mu-opioid receptor trafficking and that these effects were …
Here, we used a forward genetic screen in Caenorhabditis elegans for unbiased identification of genes regulating opioid tolerance which reve …
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. Montanaro FAM, et al. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. eCollection 2023. Front Psychiatry. 2024. PMID: 38288059 Free PMC article.
PTCHD1 encodes the patched domain-containing protein 1 (PTCHD1), which is mainly expressed in the developing brain and adult brain tissues. ...METHODS: With the aim of incorporating information on the clinical profile of affected individuals and enhancing the charac …
PTCHD1 encodes the patched domain-containing protein 1 (PTCHD1), which is mainly expressed in the developing brain and adult b …
PTCHD1 Binds Cholesterol but Not Sonic Hedgehog, Suggesting a Distinct Cellular Function.
Hiltunen MK, Timmis AJ, Thomsen M, Gkotsi DS, Iwaï H, Ribeiro OM, Goldman A, Riobo-Del Galdo NA. Hiltunen MK, et al. Int J Mol Sci. 2023 Jan 31;24(3):2682. doi: 10.3390/ijms24032682. Int J Mol Sci. 2023. PMID: 36769003 Free PMC article.
Deleterious mutations in the X-linked Patched domain-containing 1 (PTCHD1) gene may account for up to 1% of autism cases. Despite this, the PTCHD1 protein remains poorly understood. ...However, we found that PTCHD1 binds cholesterol similarly to PTCH1. Furthe …
Deleterious mutations in the X-linked Patched domain-containing 1 (PTCHD1) gene may account for up to 1% of autism cases. Despite thi …
Generation of ventralized human thalamic organoids with thalamic reticular nucleus.
Kiral FR, Cakir B, Tanaka Y, Kim J, Yang WS, Wehbe F, Kang YJ, Zhong M, Sancer G, Lee SH, Xiang Y, Park IH. Kiral FR, et al. Cell Stem Cell. 2023 May 4;30(5):677-688.e5. doi: 10.1016/j.stem.2023.03.007. Epub 2023 Apr 4. Cell Stem Cell. 2023. PMID: 37019105 Free PMC article.
Using vThOs, we explored the functions of TRN-specific, disease-associated genes patched domain containing 1 (PTCHD1) and receptor tyrosine-protein kinase (ERBB4) during human thalamic development. Perturbations in PTCHD1 or ERBB4 impaired neuronal functions in vThO …
Using vThOs, we explored the functions of TRN-specific, disease-associated genes patched domain containing 1 (PTCHD1) and receptor ty …
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.
Pastore SF, Xie CTY, Derwish R, Muhammad T, Blahova T, El-Masri SC, Frankland PW, Hamel PA, Vincent JB. Pastore SF, et al. Biol Psychiatry Glob Open Sci. 2025 Mar 22;5(4):100492. doi: 10.1016/j.bpsgos.2025.100492. eCollection 2025 Jul. Biol Psychiatry Glob Open Sci. 2025. PMID: 40475291 Free PMC article.
BACKGROUND: PTCHD1 is a susceptibility gene for autism spectrum disorder and intellectual disability. ...However, missense variants in PTCHD1 are typically reported as variants of uncertain significance by diagnostic laboratories, in part due to the limited understa …
BACKGROUND: PTCHD1 is a susceptibility gene for autism spectrum disorder and intellectual disability. ...However, missense variants i …
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.
Ung DC, Iacono G, Méziane H, Blanchard E, Papon MA, Selten M, van Rhijn JR, Montjean R, Rucci J, Martin S, Fleet A, Birling MC, Marouillat S, Roepman R, Selloum M, Lux A, Thépault RA, Hamel P, Mittal K, Vincent JB, Dorseuil O, Stunnenberg HG, Billuart P, Nadif Kasri N, Hérault Y, Laumonnier F. Ung DC, et al. Mol Psychiatry. 2018 May;23(5):1356-1367. doi: 10.1038/mp.2017.39. Epub 2017 Apr 18. Mol Psychiatry. 2018. PMID: 28416808 Free PMC article.
The structure of PTCHD1 protein is similar to the Patched (PTCH1) receptor; however, the cellular mechanisms and pathways associated with PTCHD1 in the developing brain are poorly determined. Here we show that PTCHD1 displays a C-terminal PDZ-binding motif th …
The structure of PTCHD1 protein is similar to the Patched (PTCH1) receptor; however, the cellular mechanisms and pathways associated …
62 results