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Article

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.

BMC medical genomics - 12 Jan 2023

Faheem Muhammad, Deneault Eric, Alexandrova Roumiana, Rodrigues Deivid C, Pellecchia Giovanna, Shum Carole, Zarrei Mehdi, Piekna Alina, Wei Wei, Howe Jennifer L, Thiruvahindrapuram Bhooma, Lamoureux Sylvia, Ross P Joel, Bradley Clarrisa A, Ellis James, Scherer Stephen W

Abstract excerpt

BACKGROUND: The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) have ASD, or a sub-clinical form called Broader Autism Phenotype. If the deletion extends beyond PTCHD1-AS/DDX53 to the next gene, PTCHD1, which is protein-coding, the individuals typically have...

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Identifiers

PMID: 36635662
DOI: 10.1186/s12920-022-01425-3
PMCID: PMC9837974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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