{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chung HL"],"funding":["National Institute of Neurological Disorders and Stroke","Baylor-Hopkins Center for Mendelian Genomics","NHGRI NIH HHS","NINDS NIH HHS","National Institutes of Health","National Heart Lung and Blood Institute","National Human Genome Research Institute","NIH HHS","Warren Alpert Foundation","CIHR"],"pagination":["3231-3244"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9523557"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(19)"],"pubmed_abstract":["<h4>Background</h4>The endoplasmic reticulum (ER)-membrane protein complex (EMC) is a multi-protein transmembrane complex composed of 10 subunits that functions as a membrane-protein chaperone. Variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration. Multiple families with biallelic variants have been published, yet to date, only a single report of a monoallelic variant has been described, and functional evidence is sparse.<h4>Methods</h4>Exome sequencing was used to investigate the genetic cause underlying severe developmental delay in three unrelated children. EMC1 variants were modeled in Drosophila, using loss-of-function (LoF) and overexpression studies. Glial-specific and neuronal-specific assays were used to determine whether the dysfunction was specific to one"],"journal":["Human molecular genetics"],"pubmed_title":["De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila."],"pmcid":["PMC9523557"],"funding_grant_id":["U01 HG007703","UM1 HG006542","R24 OD031447","R35 NS105078","R24 OD022005","R35NS105078","P50HD103555","MFE-164712"],"pubmed_authors":["Chung HL","Basal A","Marcogliese PC","Rapp M","Rump P","Harel T","Lu D","Fatih J","Kanca O","Fock JM","Larson A","Mok JW","Haninbal MC","Lupski JR","Bellen H","Glassford MR","Kamsteeg EJ"],"additional_accession":[]},"is_claimable":false,"name":"De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.","description":"<h4>Background</h4>The endoplasmic reticulum (ER)-membrane protein complex (EMC) is a multi-protein transmembrane complex composed of 10 subunits that functions as a membrane-protein chaperone. Variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration. Multiple families with biallelic variants have been published, yet to date, only a single report of a monoallelic variant has been described, and functional evidence is sparse.<h4>Methods</h4>Exome sequencing was used to investigate the genetic cause underlying severe developmental delay in three unrelated children. EMC1 variants were modeled in Drosophila, using loss-of-function (LoF) and overexpression studies. Glial-specific and neuronal-specific assays were used to determine whether the dysfunction was specific to one","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-05-27T21:06:26.128Z","creation":"2025-04-25T17:08:16.593Z"},"accession":"S-EPMC9523557","cross_references":{"pubmed":["35234901"],"doi":["10.1093/hmg/ddac053"]}}