{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["2(2)"],"submitter":["Nair D"],"pubmed_abstract":["Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) is part of the four-part ASC-1 transcriptional cointegrator complex. This complex includes ASCC1 (associated with spinal muscular atrophy with congenital bone fractures 2), TRIP4 (associated with spinal muscular atrophy with congenital bone fractures 1), and ASCC2 (not yet associated with human disease.) <i>ASCC3</i> encodes a DNA helicase responsible for generating single-stranded DNA as part of the DNA damage response. Interestingly, <i>ASCC3</i> expresses coding and non-coding isoforms, which act in opposition to balance the recovery of gene transcription after UV-induced DNA damage. Here we report the discovery of <i>ASCC3</i> as the cause of a neuromuscular syndrome in seven unreported individuals from six unrelated families "],"journal":["HGG advances"],"pagination":["100024"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8756546"],"repository":["biostudies-literature"],"pubmed_title":["Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>."],"pmcid":["PMC8756546"],"pubmed_authors":["Nair D","Najmabadi H","Harr MH","Bhoj EJ","Li D","Pfundt R","Kahrizi K","Erdogan H","Jayakar P","McWalter K","Ropers HH","Skrjanec Pusenjak M","Jansen S","Agolini E","Sidhu A","Yoon A","Bergant G","Jacob A","Peterlin B","Pasquier J","Arash R","Saliganan S"],"additional_accession":[]},"is_claimable":false,"name":"Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>.","description":"Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) is part of the four-part ASC-1 transcriptional cointegrator complex. This complex includes ASCC1 (associated with spinal muscular atrophy with congenital bone fractures 2), TRIP4 (associated with spinal muscular atrophy with congenital bone fractures 1), and ASCC2 (not yet associated with human disease.) <i>ASCC3</i> encodes a DNA helicase responsible for generating single-stranded DNA as part of the DNA damage response. Interestingly, <i>ASCC3</i> expresses coding and non-coding isoforms, which act in opposition to balance the recovery of gene transcription after UV-induced DNA damage. Here we report the discovery of <i>ASCC3</i> as the cause of a neuromuscular syndrome in seven unreported individuals from six unrelated families ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Apr","modification":"2026-05-08T14:04:35.911Z","creation":"2022-02-11T16:13:38.255Z"},"accession":"S-EPMC8756546","cross_references":{"pubmed":["35047834"],"doi":["10.1016/j.xhgg.2021.100024"]}}