{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nagai TH"],"funding":["American Heart Association","NIDDK NIH HHS","NHLBI NIH HHS","U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute"],"pagination":["1298"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10739977"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6(1)"],"pubmed_abstract":["Biallelic mutations of the chromatin regulator SMARCAL1 cause Schimke Immunoosseous Dysplasia (SIOD), characterized by severe growth defects and premature mortality. Atherosclerosis and hyperlipidemia are common among SIOD patients, yet their onset and progression are poorly understood. Using an integrative approach involving proteomics, mouse models, and population genetics, we investigated SMARCAL1's role. We found that SmarcAL1 interacts with angiopoietin-like 3 (Angptl3), a key regulator of lipoprotein metabolism. In vitro and in vivo analyses demonstrate SmarcAL1's vital role in maintaining cellular lipid homeostasis. The observed translocation of SmarcAL1 to cytoplasmic peroxisomes suggests a potential regulatory role in lipid metabolism through gene expression. SmarcAL1 gene inactiv"],"journal":["Communications biology"],"pubmed_title":["Chromatin regulator SMARCAL1 modulates cellular lipid metabolism."],"pmcid":["PMC10739977"],"funding_grant_id":["R33HL120781","11SDG7670007","P30 DK040561","R33 HL120781"],"pubmed_authors":["Rader DJ","Schenone M","Bullock K","Clish CB","Mizoguchi T","Yu H","Deik A","Xu YX","Carr SA","Cromley D","Nagai TH","Cowan CA","Wang Y","Hartigan C"],"additional_accession":[]},"is_claimable":false,"name":"Chromatin regulator SMARCAL1 modulates cellular lipid metabolism.","description":"Biallelic mutations of the chromatin regulator SMARCAL1 cause Schimke Immunoosseous Dysplasia (SIOD), characterized by severe growth defects and premature mortality. Atherosclerosis and hyperlipidemia are common among SIOD patients, yet their onset and progression are poorly understood. Using an integrative approach involving proteomics, mouse models, and population genetics, we investigated SMARCAL1's role. We found that SmarcAL1 interacts with angiopoietin-like 3 (Angptl3), a key regulator of lipoprotein metabolism. In vitro and in vivo analyses demonstrate SmarcAL1's vital role in maintaining cellular lipid homeostasis. The observed translocation of SmarcAL1 to cytoplasmic peroxisomes suggests a potential regulatory role in lipid metabolism through gene expression. SmarcAL1 gene inactiv","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Dec","modification":"2026-07-15T00:32:49.812Z","creation":"2025-04-06T19:18:29.042Z"},"accession":"S-EPMC10739977","cross_references":{"pubmed":["38129665"],"doi":["10.1038/s42003-023-05665-6"]}}