{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Fulton SL"],"funding":["NICHD NIH HHS","U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences","Howard Hughes Medical Institute","NIDA NIH HHS","March of Dimes Foundation (March of Dimes)","NIMH NIH HHS","U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse","U.S. Department of Health & Human Services | NIH | National Institute of Mental Health","U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development","U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke","U.S. Department of Health & Human Services | NIH | National Cancer Institute","March of Dimes Foundation","NINDS NIH HHS","Alfred P. Sloan Foundation","NCI NIH HHS","NIGMS NIH HHS"],"pagination":["6384"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9606253"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(1)"],"pubmed_abstract":["With an incidence of ~1 in 800 births, Down syndrome (DS) is the most common chromosomal condition linked to intellectual disability worldwide. While the genetic basis of DS has been identified as a triplication of chromosome 21 (HSA21), the genes encoded from HSA21 that directly contribute to cognitive deficits remain incompletely understood. Here, we found that the HSA21-encoded chromatin effector, BRWD1, was upregulated in neurons derived from iPS cells from an individual with Down syndrome and brain of trisomic mice. We showed that selective copy number restoration of Brwd1 in trisomic animals rescued deficits in hippocampal LTP, cognition and gene expression. We demonstrated that Brwd1 tightly binds the BAF chromatin remodeling complex, and that increased Brwd1 expression promotes BAF"],"journal":["Nature communications"],"pubmed_title":["Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome."],"pmcid":["PMC9606253"],"funding_grant_id":["R01 HD082568","F99 NS125774","Basil O'Connor Award","SC2 GM122646","Basil O'Connor Award","R01 NS085171","R01 CA163915","R01 HD097088","F99 NS118735","R01 DA040621","F31 MH116588","R01 MH111604","R15 HD090603","R37 NS046789"],"pubmed_authors":["Farrelly LA","Shen L","Robison AJ","Lyu Y","Al-Kachak A","Hays EC","Blitzer RD","Friedman AK","Fanutza T","Cetin B","Lepack AE","Roussos P","Fulton SL","Wenderski W","Chan JC","Brennand KJ","Ramakrishnan A","Bendl J","Roper RJ","Schimenti JC","Tran TN","Crabtree GR","Neal A","Eagle AL","Bastle RM","Neve RL","Maze I"],"additional_accession":[]},"is_claimable":false,"name":"Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome.","description":"With an incidence of ~1 in 800 births, Down syndrome (DS) is the most common chromosomal condition linked to intellectual disability worldwide. While the genetic basis of DS has been identified as a triplication of chromosome 21 (HSA21), the genes encoded from HSA21 that directly contribute to cognitive deficits remain incompletely understood. Here, we found that the HSA21-encoded chromatin effector, BRWD1, was upregulated in neurons derived from iPS cells from an individual with Down syndrome and brain of trisomic mice. We showed that selective copy number restoration of Brwd1 in trisomic animals rescued deficits in hippocampal LTP, cognition and gene expression. We demonstrated that Brwd1 tightly binds the BAF chromatin remodeling complex, and that increased Brwd1 expression promotes BAF","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2025-04-18T20:20:07.015Z","creation":"2025-04-07T08:14:48.252Z"},"accession":"S-EPMC9606253","cross_references":{"pubmed":["36289231"],"doi":["10.1038/s41467-022-34200-0"]}}