{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Jackson TD"],"funding":["Mito Foundation"],"pagination":["e2115566119"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9060475"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["119(13)"],"pubmed_abstract":["SignificanceMitochondria are double-membraned eukaryotic organelles that house the proteins required for generation of ATP, the energy currency of cells. ATP generation within mitochondria is performed by five multisubunit complexes (complexes I to V), the assembly of which is an intricate process. Mutations in subunits of these complexes, or the suite of proteins that help them assemble, lead to a severe multisystem condition called mitochondrial disease. We show that SFXN4, a protein that causes mitochondrial disease when mutated, assists with the assembly of complex I. This finding explains why mutations in <i>SFXN4</i> cause mitochondrial disease and is surprising because SFXN4 belongs to a family of amino acid transporter proteins, suggesting that it has undergone a dramatic shift in "],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module."],"pmcid":["PMC9060475"],"funding_grant_id":["N/A"],"pubmed_authors":["Muellner-Wong L","Fujihara KM","Stait T","Crameri JJ","Palmer CS","Sharpe AJ","Ryan MT","Stroud DA","Stojanovski D","Formosa LE","Frazier AE","Hock DH","Thorburn DR","Jackson TD"],"additional_accession":[]},"is_claimable":false,"name":"Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.","description":"SignificanceMitochondria are double-membraned eukaryotic organelles that house the proteins required for generation of ATP, the energy currency of cells. ATP generation within mitochondria is performed by five multisubunit complexes (complexes I to V), the assembly of which is an intricate process. Mutations in subunits of these complexes, or the suite of proteins that help them assemble, lead to a severe multisystem condition called mitochondrial disease. We show that SFXN4, a protein that causes mitochondrial disease when mutated, assists with the assembly of complex I. This finding explains why mutations in <i>SFXN4</i> cause mitochondrial disease and is surprising because SFXN4 belongs to a family of amino acid transporter proteins, suggesting that it has undergone a dramatic shift in ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2026-05-31T01:07:15.066Z","creation":"2025-04-04T11:31:27.545Z"},"accession":"S-EPMC9060475","cross_references":{"pubmed":["35333655"],"doi":["10.1073/pnas.2115566119"]}}