{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Signes A"],"funding":["Lister Institute of Preventive Medicine","European Research Council","Telethon","Medical Research Council","Wellcome Trust"],"pagination":["e9582"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6328941"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_abstract":["Loss-of-function mutations in <i>APOPT1</i>, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome <i>c</i> oxidase (COX) deficiency. Although the genetic association of APOPT1 pathogenic variants with isolated COX defects is now clear, the biochemical link between APOPT1 function and COX has remained elusive. We investigated the molecular role of APOPT1 using different approaches. First, we generated an <i>Apopt1</i> knockout mouse model which shows impaired motor skills, e.g., decreased motor coordination and endurance, associated with reduced COX activity and levels in multiple tissues. In addition, by achieving stable expression of wild-type APOPT1 in control and patient-derived cultured cel"],"journal":["EMBO molecular medicine"],"pubmed_title":["APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS."],"pmcid":["PMC6328941"],"funding_grant_id":["1625900","FP7‐322424","RG87950","MC_UP_1002/1","GGP15091","MC_UU_00015/8","MC_UU_00015/7","MC_UU_00015/5","102770/Z/13/Z","MC_UU_00015/3","1606028"],"pubmed_authors":["Dickson AS","Beninca C","Nathan JA","Bertini E","Ghezzi D","Viscomi C","Cerutti R","Fernandez-Vizarra E","Zeviani M","Murphy MP","Signes A","Carrozzo R","Hinchy EC"],"additional_accession":[]},"is_claimable":false,"name":"APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.","description":"Loss-of-function mutations in <i>APOPT1</i>, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome <i>c</i> oxidase (COX) deficiency. Although the genetic association of APOPT1 pathogenic variants with isolated COX defects is now clear, the biochemical link between APOPT1 function and COX has remained elusive. We investigated the molecular role of APOPT1 using different approaches. First, we generated an <i>Apopt1</i> knockout mouse model which shows impaired motor skills, e.g., decreased motor coordination and endurance, associated with reduced COX activity and levels in multiple tissues. In addition, by achieving stable expression of wild-type APOPT1 in control and patient-derived cultured cel","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Jan","modification":"2026-04-30T05:02:24.513Z","creation":"2019-03-26T22:37:52Z"},"accession":"S-EPMC6328941","cross_references":{"pubmed":["30552096"],"doi":["10.15252/emmm.201809582"]}}