| http://purl.uniprot.org/citations/21057504 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21057504 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21057504 | http://www.w3.org/2000/01/rdf-schema#comment | "An isolated defect of respiratory chain complex I activity is a frequent biochemical abnormality in mitochondrial disorders. Despite intensive investigation in recent years, in most instances, the molecular basis underpinning complex I defects remains unknown. We report whole-exome sequencing of a single individual with severe, isolated complex I deficiency. This analysis, followed by filtering with a prioritization of mitochondrial proteins, led us to identify compound heterozygous mutations in ACAD9, which encodes a poorly understood member of the mitochondrial acyl-CoA dehydrogenase protein family. We demonstrated the pathogenic role of the ACAD9 variants by the correction of the complex I defect on expression of the wildtype ACAD9 protein in fibroblasts derived from affected individuals. ACAD9 screening of 120 additional complex I-defective index cases led us to identify two additional unrelated cases and a total of five pathogenic ACAD9 alleles."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.706"xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.706"xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Schmidt T."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Schmidt T."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Rolinski B."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Rolinski B."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Uziel G."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Uziel G."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Biskup S."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Biskup S."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Boehm D."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Boehm D."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Danhauser K."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Danhauser K."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Haack T.B."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Haack T.B."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Haberberger B."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Haberberger B."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Hoser J."xsd:string |
| http://purl.uniprot.org/citations/21057504 | http://purl.uniprot.org/core/author | "Hoser J."xsd:string |