| http://purl.uniprot.org/citations/22019594 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22019594 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22019594 | http://www.w3.org/2000/01/rdf-schema#comment | "The assembly of complex I (NADH-ubiquinone oxidoreductase) is a complicated process, requiring the integration of 45 subunits encoded by both nuclear and mitochondrial DNAs into a structure of approximately 1 MDa. A number of "assembly factors" that aid complex I biogenesis have recently been described, including C8orf38. This protein was identified as an assembly factor by its evolutionary conservation in organisms containing complex I and by a C8orf38 mutation in a patient presenting with Leigh syndrome and isolated complex I deficiency. In this report, we have undertaken the characterization of C8orf38 and its role in complex I assembly. Analysis of mitochondria from fibroblasts of a patient harboring a C8orf38 mutation showed almost undetectable levels of steady-state complex I and defective biogenesis of the mtDNA-encoded subunit ND1. Complementation with wild-type C8orf38 restored the levels of both ND1 and complex I, confirming the C8orf38 mutation as the cause of the complex I defect in the patient. In the absence of ND1 in patient cells, early- and mid-stage intermediate complexes were still formed; however, assembly of late-stage intermediates was impaired, indicating a convergence point in the assembly process. While C8orf38 appears to behave at a step in complex I biogenesis similar to that of the assembly factor C20orf7, complementation studies showed that both proteins are required for ND1 synthesis/stabilization. We conclude that C8orf38 is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate and that mutation of C8orf38 disrupts the initial stages of complex I biogenesis."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jmb.2011.10.012"xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jmb.2011.10.012"xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "McKenzie M."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "McKenzie M."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Lazarou M."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Lazarou M."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Ryan M.T."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Ryan M.T."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Thorburn D.R."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Thorburn D.R."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "George C."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "George C."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Compton A.G."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Compton A.G."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Tucker E.J."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/author | "Tucker E.J."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/name | "J. Mol. Biol."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/name | "J. Mol. Biol."xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/pages | "413-426"xsd:string |
| http://purl.uniprot.org/citations/22019594 | http://purl.uniprot.org/core/pages | "413-426"xsd:string |