{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zurita Rendon O"],"funding":["Consejo Nacional de Ciencia y Tecnología","Medical Research Council","Gouvernement du Canada | Canadian Institutes of Health Research","Fonds de Recherche du Québec—Nature et Technologies"],"pagination":["2132-40"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4968213"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["36(16)"],"pubmed_abstract":["Complex I (NADH ubiquinone oxidoreductase) is a large multisubunit enzyme that catalyzes the first step in oxidative phosphorylation (OXPHOS). In mammals, complex I biogenesis occurs in a stepwise manner, a process that requires the participation of several nucleus-encoded accessory proteins. The FAD-dependent oxidoreductase-containing domain 1 (FOXRED1) protein is a complex I assembly factor; however, its specific role in the assembly pathway remains poorly understood. We identified a homozygous missense mutation, c.1308 G→A (p.V421M) in FOXRED1 in a patient who presented with epilepsy and severe psychomotor retardation. A patient myoblast line showed a severe reduction in complex I, associated with the accumulation of subassemblies centered around ∼340 kDa, and a milder decrease in compl"],"journal":["Molecular and cellular biology"],"pubmed_title":["A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II."],"pmcid":["PMC4968213"],"funding_grant_id":["209378","140802","G1000848"],"pubmed_authors":["Zurita Rendon O","Antonicka H","Horvath R","Shoubridge EA"],"additional_accession":[]},"is_claimable":false,"name":"A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.","description":"Complex I (NADH ubiquinone oxidoreductase) is a large multisubunit enzyme that catalyzes the first step in oxidative phosphorylation (OXPHOS). In mammals, complex I biogenesis occurs in a stepwise manner, a process that requires the participation of several nucleus-encoded accessory proteins. The FAD-dependent oxidoreductase-containing domain 1 (FOXRED1) protein is a complex I assembly factor; however, its specific role in the assembly pathway remains poorly understood. We identified a homozygous missense mutation, c.1308 G→A (p.V421M) in FOXRED1 in a patient who presented with epilepsy and severe psychomotor retardation. A patient myoblast line showed a severe reduction in complex I, associated with the accumulation of subassemblies centered around ∼340 kDa, and a milder decrease in compl","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Aug","modification":"2026-04-15T17:15:42.225Z","creation":"2019-03-27T02:19:35Z"},"accession":"S-EPMC4968213","cross_references":{"pubmed":["27215383"],"doi":["10.1128/mcb.00066-16","10.1128/MCB.00066-16"]}}