{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T07:26:51Z","timestamp":1793863611283,"version":"4.6.1"},"reference-count":74,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T00:00:00Z","timestamp":1753747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-20-CE17-0006"],"award-info":[{"award-number":["ANR-20-CE17-0006"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience &amp; Biobehavioral Reviews"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.neubiorev.2025.106307","type":"journal-article","created":{"date-parts":[[2025,7,27]],"date-time":"2025-07-27T14:06:49Z","timestamp":1753625209000},"page":"106307","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders"],"prefix":"10.1016","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5703-7002","authenticated-orcid":false,"given":"D\u00e9vina C.","family":"Ung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"H\u00e9rault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Laumonnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neubiorev.2025.106307_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2021.110139","article-title":"ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly","volume":"37","author":"Arguello","year":"2021","journal-title":"Cell Rep."},{"key":"10.1016\/j.neubiorev.2025.106307_bib2","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/nature11737","article-title":"FMRP targets distinct mRNA sequence elements to regulate protein expression","volume":"492","author":"Ascano","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.neubiorev.2025.106307_bib3","article-title":"Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge","author":"Aspromonte","year":"2025","journal-title":"Hum. Genet. Adv. Online Publ."},{"issue":"11","key":"10.1016\/j.neubiorev.2025.106307_bib4","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.3390\/genes12111833","article-title":"Dyrk1a from gene function in development and physiology to dosage correction across life span in Down syndrome","volume":"12","author":"Atas-Ozcan","year":"2021","journal-title":"Genes"},{"issue":"15","key":"10.1016\/j.neubiorev.2025.106307_bib5","doi-asserted-by":"crossref","first-page":"4327","DOI":"10.1093\/hmg\/ddv166","article-title":"Spatiotemporal dynamics of the postnatal developing primate brain transcriptome","volume":"24","author":"Bakken","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neubiorev.2025.106307_bib6","doi-asserted-by":"crossref","first-page":"37","DOI":"10.3389\/fnsyn.2018.00037","article-title":"Retromer in synaptic function and pathology","volume":"10","author":"Brodin","year":"2018","journal-title":"Front. Synaptic Neurosci."},{"issue":"1","key":"10.1016\/j.neubiorev.2025.106307_bib7","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s12964-018-0220-7","article-title":"A highlight on Sonic hedgehog pathway","volume":"16","author":"Carballo","year":"2018","journal-title":"Cell Commun. Signal."},{"issue":"5323","key":"10.1016\/j.neubiorev.2025.106307_bib8","doi-asserted-by":"crossref","DOI":"10.1126\/science.277.5323.228","article-title":"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis","volume":"277","author":"Carstea","year":"1997","journal-title":"Science"},{"issue":"5","key":"10.1016\/j.neubiorev.2025.106307_bib9","doi-asserted-by":"crossref","first-page":"420","DOI":"10.3390\/cells13050420","article-title":"Molecular organization and regulation of the mammalian synapse by the post-translational modification SUMOylation","volume":"13","author":"Chato-Astrain","year":"2024","journal-title":"Cells"},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib10","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/cge.12482","article-title":"Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder","volume":"88","author":"Chaudhry","year":"2015","journal-title":"Clin. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib11","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.molcel.2014.03.023","article-title":"Fragile X mental retardation protein regulates translation by binding directly to the ribosome","volume":"54","author":"Chen","year":"2014","journal-title":"Mol. Cell"},{"issue":"50","key":"10.1016\/j.neubiorev.2025.106307_bib12","doi-asserted-by":"crossref","first-page":"E6983","DOI":"10.1073\/pnas.1517045112","article-title":"PSD-95 family MAGUKs are essential for anchoring AMPA and NMDA receptor complexes at the postsynaptic density","volume":"112","author":"Chen","year":"2015","journal-title":"Proc. Natl. Acad. Sci."},{"issue":"1","key":"10.1016\/j.neubiorev.2025.106307_bib13","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.neuron.2014.02.018","article-title":"Retromer mediates a discrete route of local membrane delivery to dendrites","volume":"82","author":"Choy","year":"2014","journal-title":"Neuron"},{"issue":"47","key":"10.1016\/j.neubiorev.2025.106307_bib14","doi-asserted-by":"crossref","first-page":"33020","DOI":"10.1074\/jbc.M114.597203","article-title":"A PTCH1 homolog transcriptionally activated by p53 suppresses Hedgehog signaling","volume":"289","author":"Chung","year":"2014","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neubiorev.2025.106307_bib15","doi-asserted-by":"crossref","first-page":"35","DOI":"10.3389\/fnbeh.2017.00035","article-title":"The role of early growth response 1 (EGR1) in brain plasticity and neuropsychiatric disorders","volume":"11","author":"Duclot","year":"2017","journal-title":"Front. Behav. Neurosci."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib16","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.bbrc.2007.09.047","article-title":"Male germ cell-specific expression of a novel Patched-domain containing gene Ptchd3","volume":"363","author":"Fan","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"1","key":"10.1016\/j.neubiorev.2025.106307_bib17","article-title":"CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction","volume":"5","author":"Farley","year":"2024","journal-title":"HGG Adv."},{"issue":"1","key":"10.1016\/j.neubiorev.2025.106307_bib18","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/j.1399-0004.2010.01590.x","article-title":"Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked ID with or without autism","volume":"79","author":"Filges","year":"2011","journal-title":"Clin. Genet."},{"key":"10.1016\/j.neubiorev.2025.106307_bib19","doi-asserted-by":"crossref","DOI":"10.3389\/fnins.2020.603373","article-title":"Essential functions of the transcription factor Npas4 in neural circuit development, plasticity, and diseases","volume":"14","author":"Fu","year":"2020","journal-title":"Front. Neurosci."},{"issue":"8","key":"10.1016\/j.neubiorev.2025.106307_bib20","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1038\/ng.3039","article-title":"Most genetic risk for autism resides with common variation","volume":"46","author":"Gaugler","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neubiorev.2025.106307_bib21","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1471-2350-12-45","article-title":"Human PTCHD3 nulls: Rare copy number and sequence variants suggest a non-essential gene","volume":"12","author":"Ghahramani Seno","year":"2011","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.neubiorev.2025.106307_bib22","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.conb.2017.11.006","article-title":"Disrupted circuits in mouse models of ASD and ID","volume":"48","author":"Golden","year":"2018","journal-title":"Curr. Opin. Neurobiol."},{"issue":"7","key":"10.1016\/j.neubiorev.2025.106307_bib23","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1002\/humu.24208","article-title":"Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause ID and ASD","volume":"42","author":"Halewa","year":"2021","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib24","doi-asserted-by":"crossref","first-page":"2682","DOI":"10.3390\/ijms24032682","article-title":"PTCHD1 binds cholesterol but not Sonic Hedgehog, suggesting a distinct cellular function","volume":"24","author":"Hiltunen","year":"2023","journal-title":"Int. J. Mol. Sci."},{"issue":"2","key":"10.1016\/j.neubiorev.2025.106307_bib25","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/5673","article-title":"Snapin: A SNARE-associated protein implicated in synaptic transmission","volume":"2","author":"Ilardi","year":"1999","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neubiorev.2025.106307_bib26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/bs.ctdb.2022.04.003","article-title":"Hedgehog signaling","volume":"149","author":"Ingham","year":"2022","journal-title":"Curr. Top. Dev. Biol."},{"issue":"4","key":"10.1016\/j.neubiorev.2025.106307_bib27","first-page":"1","article-title":"Synapse development organized by neuronal activity-regulated immediate-early genes","volume":"50","author":"Kim","year":"2018","journal-title":"Exp. Mol. Med."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib28","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.neuron.2015.09.048","article-title":"Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease","volume":"88","author":"Karaca","year":"2015","journal-title":"Neuron"},{"issue":"7295","key":"10.1016\/j.neubiorev.2025.106307_bib29","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nature09033","article-title":"Widespread transcription at neuronal activity-regulated enhancers","volume":"465","author":"Kim","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.neubiorev.2025.106307_bib30","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.70504","article-title":"Patched 1 reduces the accessibility of cholesterol in the outer leaflet of membranes","volume":"10","author":"Kinnebrew","year":"2021","journal-title":"eLife"},{"issue":"5","key":"10.1016\/j.neubiorev.2025.106307_bib31","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.stem.2023.03.007","article-title":"Generation of ventralized human thalamic organoids with thalamic reticular nucleus","volume":"30","author":"Kiral","year":"2023","journal-title":"Cell Stem Cell"},{"issue":"1","key":"10.1016\/j.neubiorev.2025.106307_bib32","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.ajhg.2015.11.024","article-title":"Systematic phenomics analysis deconvolutes genes mutated in ID into biologically coherent modules","volume":"98","author":"Kochinke","year":"2016","journal-title":"Am. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.neubiorev.2025.106307_bib33","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1038\/nn.4353","article-title":"Genome-wide prediction and functional characterization of the genetic basis of ASD","volume":"19","author":"Krishnan","year":"2016","journal-title":"Nat. Neurosci."},{"issue":"1","key":"10.1016\/j.neubiorev.2025.106307_bib34","doi-asserted-by":"crossref","first-page":"3964","DOI":"10.1038\/s41467-023-39733-6","article-title":"The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells","volume":"14","author":"Kunkel","year":"2023","journal-title":"Nat. Commun."},{"issue":"4","key":"10.1016\/j.neubiorev.2025.106307_bib35","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0168-9525(02)02640-9","article-title":"The sterol-sensing domain: multiple families, a unique role?","volume":"18","author":"Kuwabara","year":"2002","journal-title":"Trends Genet."},{"issue":"2","key":"10.1016\/j.neubiorev.2025.106307_bib36","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1086\/511441","article-title":"The role of neuronal complexes in human X-linked brain diseases","volume":"80","author":"Laumonnier","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib37","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.neuron.2020.01.042","article-title":"Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development","volume":"106","author":"Lennox","year":"2020","journal-title":"Neuron"},{"issue":"2","key":"10.1016\/j.neubiorev.2025.106307_bib38","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ajhg.2007.12.009","article-title":"Structural variation of chromosomes in ASD","volume":"82","author":"Marshall","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.neubiorev.2025.106307_bib39","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1038\/s41593-022-01135-0","article-title":"Ptchd1 mediates opioid tolerance via cholesterol-dependent effects on \u03bc-opioid receptor trafficking","volume":"25","author":"Maza","year":"2022","journal-title":"Nat. Neurosci."},{"issue":"5","key":"10.1016\/j.neubiorev.2025.106307_bib40","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/j.neuropharm.2004.06.023","article-title":"The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin","volume":"47","author":"Meyer","year":"2004","journal-title":"Neuropharmacology"},{"issue":"11","key":"10.1016\/j.neubiorev.2025.106307_bib41","doi-asserted-by":"crossref","DOI":"10.15252\/embr.201948143","article-title":"NPC1 enables cholesterol mobilization during long-term potentiation that can be restored in Niemann-Pick disease type C by CYP46A1 activation","volume":"20","author":"Mitroi","year":"2019","journal-title":"EMBO Rep."},{"key":"10.1016\/j.neubiorev.2025.106307_bib42","doi-asserted-by":"crossref","DOI":"10.3389\/fpsyt.2024.1375954","article-title":"Corrigendum: PTCHD1 gene mutation\/deletion: the cognitive-behavioral phenotyping of four case reports","volume":"15","author":"Montanaro","year":"2024","journal-title":"Front. Psychiatry"},{"key":"10.1016\/j.neubiorev.2025.106307_bib43","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-49781-y","article-title":"Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity\/ASDs: a potential new biological diagnostic marker","volume":"9","author":"Murakami","year":"2019","journal-title":"Sci. Rep."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib44","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.neuron.2019.09.040","article-title":"Combinatorial targeting of distributed forebrain networks reverses noise hypersensitivity in a model of ASD","volume":"104","author":"Nakajima","year":"2019","journal-title":"Neuron"},{"issue":"49","key":"10.1016\/j.neubiorev.2025.106307_bib45","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3001267","article-title":"Disruption at the PTCHD1 locus on Xp22.11 in ASD and ID","volume":"2","author":"Noor","year":"2010","journal-title":"Sci. Transl. Med."},{"issue":"8","key":"10.1016\/j.neubiorev.2025.106307_bib46","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.tins.2020.05.004","article-title":"NDD: from genetics to functional pathways","volume":"43","author":"Parenti","year":"2020","journal-title":"Trends Neurosci."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib47","doi-asserted-by":"crossref","first-page":"527","DOI":"10.3390\/genes13030527","article-title":"PTCHD1: identification and neurodevelopmental contributions of an ASD and ID susceptibility gene","volume":"13","author":"Pastore","year":"2022","journal-title":"Genes"},{"key":"10.1016\/j.neubiorev.2025.106307_bib48","article-title":"PTCHD1 interacts with the SNARE-associated protein SNAPIN in vitro via its first exoplasmic loop","author":"Pastore","year":"2024","journal-title":"bioRxiv"},{"issue":"4","key":"10.1016\/j.neubiorev.2025.106307_bib49","doi-asserted-by":"crossref","DOI":"10.1016\/j.bpsgos.2025.100492","article-title":"Autism-associated PTCHD1 missense variants bind to the SNARE-associated protein SNAPIN but exhibit impaired subcellular trafficking","volume":"5","author":"Pastore","year":"2025","journal-title":"Biological Psychiatry Global Open Science"},{"issue":"7304","key":"10.1016\/j.neubiorev.2025.106307_bib50","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/nature09146","article-title":"Functional impact of global rare copy number variation in ASDs","volume":"466","author":"Pinto","year":"2010","journal-title":"Nature"},{"issue":"7949","key":"10.1016\/j.neubiorev.2025.106307_bib51","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1038\/s41586-023-05711-7","article-title":"A NPAS4-NuA4 complex couples synaptic activity to DNA repair","volume":"614","author":"Pollina","year":"2023","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.neubiorev.2025.106307_bib52","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.biopsych.2019.07.014","article-title":"Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS","volume":"87","author":"Ross","year":"2020","journal-title":"Biol. Psychiatry"},{"issue":"16","key":"10.1016\/j.neubiorev.2025.106307_bib53","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1016\/j.neuron.2021.06.005","article-title":"Anterior thalamic dysfunction underlies cognitive deficits in a subset of neuropsychiatric disease models","volume":"109","author":"Roy","year":"2021","journal-title":"Neuron"},{"issue":"6263","key":"10.1016\/j.neubiorev.2025.106307_bib54","doi-asserted-by":"crossref","DOI":"10.1126\/science.aab3897","article-title":"Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders","volume":"350","author":"Sahin","year":"2015","journal-title":"Science"},{"issue":"6","key":"10.1016\/j.neubiorev.2025.106307_bib55","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/ncb990","article-title":"NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex","volume":"5","author":"Sans","year":"2003","journal-title":"Nat. Cell Biol."},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib56","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","article-title":"Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism","volume":"180","author":"Satterstrom","year":"2020","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.neubiorev.2025.106307_bib57","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2015.07.004","article-title":"Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling","volume":"97","author":"Snijders Blok","year":"2015","journal-title":"Am. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.neubiorev.2025.106307_bib58","doi-asserted-by":"crossref","first-page":"4141","DOI":"10.1083\/jcb.201903018","article-title":"Disease-associated mutations in Niemann\u2013Pick type C1 alter ER calcium signaling and neuronal plasticity","volume":"218","author":"Tiscione","year":"2019","journal-title":"J. Cell Biol."},{"issue":"49","key":"10.1016\/j.neubiorev.2025.106307_bib59","doi-asserted-by":"crossref","first-page":"11993","DOI":"10.1523\/JNEUROSCI.1393-17.2017","article-title":"Cellular functions of the autism risk factor PTCHD1 in mice","volume":"37","author":"Tora","year":"2017","journal-title":"J. Neurosci."},{"issue":"12","key":"10.1016\/j.neubiorev.2025.106307_bib60","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1038\/ejhg.2015.37","article-title":"Contribution of common and rare variants of the PTCHD1 gene to ASDs and ID","volume":"23","author":"Torrico","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.neubiorev.2025.106307_bib61","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1038\/mp.2017.39","article-title":"Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse","volume":"23","author":"Ung","year":"2018","journal-title":"Mol. Psychiatry"},{"issue":"1","key":"10.1016\/j.neubiorev.2025.106307_bib62","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/nrg3999","article-title":"Genetic studies in intellectual disability and related disorders","volume":"17","author":"Vissers","year":"2016","journal-title":"Nat. Rev. Genet."},{"issue":"8","key":"10.1016\/j.neubiorev.2025.106307_bib63","doi-asserted-by":"crossref","first-page":"4908","DOI":"10.1074\/jbc.M114.614420","article-title":"Phosphorylation of synaptic GTPase-activating protein (synGAP) by Ca2+\/calmodulin-dependent protein kinase II (CaMKII) and cyclin-dependent kinase 5 (CDK5) alters the ratio of its GAP activity toward Ras and Rap GTPases","volume":"290","author":"Walkup","year":"2015","journal-title":"J. Biol. Chem."},{"issue":"14","key":"10.1016\/j.neubiorev.2025.106307_bib64","doi-asserted-by":"crossref","first-page":"2386","DOI":"10.1093\/bioinformatics\/bty977","article-title":"Capsule network for protein post-translational modification site prediction","volume":"35","author":"Wang","year":"2019","journal-title":"Bioinformatics"},{"issue":"W1","key":"10.1016\/j.neubiorev.2025.106307_bib65","doi-asserted-by":"crossref","first-page":"W140","DOI":"10.1093\/nar\/gkaa275","article-title":"MusiteDeep: a deep-learning based webserver for protein post-translational modification site prediction and visualization","volume":"48","author":"Wang","year":"2020","journal-title":"Nucleic Acids Res."},{"issue":"24","key":"10.1016\/j.neubiorev.2025.106307_bib66","doi-asserted-by":"crossref","first-page":"3909","DOI":"10.1093\/bioinformatics\/btx496","article-title":"MusiteDeep: a deep-learning framework for general and kinase-specific phosphorylation site prediction","volume":"33","author":"Wang","year":"2017","journal-title":"Bioinformatics"},{"issue":"14","key":"10.1016\/j.neubiorev.2025.106307_bib67","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1242\/dev.123737","article-title":"The retromer complex in development and disease","volume":"142","author":"Wang","year":"2015","journal-title":"Development"},{"issue":"7597","key":"10.1016\/j.neubiorev.2025.106307_bib68","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/nature17427","article-title":"Thalamic reticular impairment underlies attention deficit in Ptchd1(Y\/-) mice","volume":"532","author":"Wells","year":"2016","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.neubiorev.2025.106307_bib69","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3390\/cells13020199","article-title":"Nonsynonymous mutations in ID and ASD gene PTCHD1 disrupt N-glycosylation and reduce protein stability","volume":"13","author":"Xie","year":"2024","journal-title":"Cells"},{"key":"10.1016\/j.neubiorev.2025.106307_bib70","doi-asserted-by":"crossref","DOI":"10.1016\/j.compbiolchem.2022.107725","article-title":"The point mutation of the cholesterol trafficking membrane protein NPC1 may affect its proper function in more than a single step: molecular dynamics simulation study","volume":"99","author":"Yoon","year":"2022","journal-title":"Comput. Biol. Chem."},{"key":"10.1016\/j.neubiorev.2025.106307_bib71","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.cca.2013.11.026","article-title":"NPC1, intracellular cholesterol trafficking and atherosclerosis","volume":"429","author":"Yu","year":"2014","journal-title":"Clin. Chim. Acta"},{"issue":"4","key":"10.1016\/j.neubiorev.2025.106307_bib72","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2019-0811","article-title":"Prevalence and trends of developmental disabilities among children in the United States: 2009\u20132017","volume":"144","author":"Zablotsky","year":"2019","journal-title":"Pediatrics"},{"issue":"3","key":"10.1016\/j.neubiorev.2025.106307_bib73","doi-asserted-by":"crossref","first-page":"7318","DOI":"10.4238\/2014.February.13.11","article-title":"Comprehensive analysis of patched domain-containing genes reveals a unique evolutionary pattern","volume":"13","author":"Zhong","year":"2014","journal-title":"Genet. Mol. Res."},{"issue":"4","key":"10.1016\/j.neubiorev.2025.106307_bib74","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nrn.2016.18","article-title":"Mechanistic basis of MAGUK-organized complexes in synaptic development and signalling","volume":"17","author":"Zhu","year":"2016","journal-title":"Nat. Rev. Neurosci."}],"container-title":["Neuroscience &amp; Biobehavioral Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0149763425003082?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0149763425003082?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T07:49:09Z","timestamp":1772783349000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0149763425003082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":74,"alternative-id":["S0149763425003082"],"URL":"https:\/\/doi.org\/10.1016\/j.neubiorev.2025.106307","relation":{},"ISSN":["0149-7634"],"issn-type":[{"value":"0149-7634","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The PTCHD1 protein: A prominent actor in brain function and in neurodevelopmental disorders","name":"articletitle","label":"Article Title"},{"value":"Neuroscience & Biobehavioral Reviews","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neubiorev.2025.106307","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"106307"}}