{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lampersberger L"],"funding":["Deutsche Forschungsgemeinschaft (DFG)","Cancer Research UK","Deutsche Forschungsgemeinschaft","UKRI | Medical Research Council (MRC)","HHS | NIH | National Institute of General Medical Sciences","Wellcome Trust","UKRI | Medical Research Council","HHS | NIH | National Institute of General Medical Sciences (NIGMS)"],"pagination":["e2217992120"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9945973"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["120(5)"],"pubmed_abstract":["SWItch/sucrose non-fermenting (SWI/SNF) complexes are a family of chromatin remodelers that are conserved across eukaryotes. Mutations in subunits of SWI/SNF cause a multitude of different developmental disorders in humans, most of which have no current treatment options. Here, we identify an alanine-to-valine-causing mutation in the SWI/SNF subunit <i>snfc-5</i> (<i>SMARCB1</i> in humans) that prevents embryonic lethality in <i>Caenorhabditis elegans</i> nematodes harboring a loss-of-function mutation in the SWI/SNF subunit <i>swsn-1</i> (<i>SMARCC1/2</i> in humans). Furthermore, we found that the combination of this specific mutation in <i>snfc-5</i> and a loss-of-function mutation in either of the E3 ubiquitin ligases <i>ubr-5</i> (<i>UBR5</i> in humans) or <i>hecd-1</i> (<i>HECTD1</i> "],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Loss of the E3 ubiquitin ligases UBR-5 or HECD-1 restores <i>Caenorhabditis elegans</i> development in the absence of SWI/SNF function."],"pmcid":["PMC9945973"],"funding_grant_id":["259130777 -SFB 1177","R01GM121597","Epigenetics and Evolution","C13474/A27826","219475/Z/19/Z"],"pubmed_authors":["Matus DQ","Beli P","Ghosh S","Price J","Conte F","Sarkies P","Xiao Y","Lampersberger L","Burton NO","Miska EA","Jordan D"],"additional_accession":[]},"is_claimable":false,"name":"Loss of the E3 ubiquitin ligases UBR-5 or HECD-1 restores <i>Caenorhabditis elegans</i> development in the absence of SWI/SNF function.","description":"SWItch/sucrose non-fermenting (SWI/SNF) complexes are a family of chromatin remodelers that are conserved across eukaryotes. Mutations in subunits of SWI/SNF cause a multitude of different developmental disorders in humans, most of which have no current treatment options. Here, we identify an alanine-to-valine-causing mutation in the SWI/SNF subunit <i>snfc-5</i> (<i>SMARCB1</i> in humans) that prevents embryonic lethality in <i>Caenorhabditis elegans</i> nematodes harboring a loss-of-function mutation in the SWI/SNF subunit <i>swsn-1</i> (<i>SMARCC1/2</i> in humans). Furthermore, we found that the combination of this specific mutation in <i>snfc-5</i> and a loss-of-function mutation in either of the E3 ubiquitin ligases <i>ubr-5</i> (<i>UBR5</i> in humans) or <i>hecd-1</i> (<i>HECTD1</i> ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2025-04-04T22:39:28.193Z","creation":"2025-04-04T22:39:28.193Z"},"accession":"S-EPMC9945973","cross_references":{"pubmed":["36689659"],"doi":["10.1073/pnas.2217992120"]}}