| http://purl.uniprot.org/citations/22036843 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22036843 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22036843 | http://www.w3.org/2000/01/rdf-schema#comment | "In this study, we investigated the pathogenicity of a homozygous Asp446Asn mutation in the NDUFS2 gene of a patient with a mitochondrial respiratory chain complex I deficiency. The clinical, biochemical, and genetic features of the NDUFS2 patient were compared with those of 4 patients with previously identified NDUFS2 mutations. All 5 patients presented with Leigh syndrome. In addition, 3 out of 5 showed hypertrophic cardiomyopathy. Complex I amounts in the patient carrying the Asp446Asn mutation were normal, while the complex I activity was strongly reduced, showing that the NDUFS2 mutation affects complex I enzymatic function. By contrast, the 4 other NDUFS2 patients showed both a reduced amount and activity of complex I. The enzymatic defect in fibroblasts of the patient carrying the Asp446Asn mutation was rescued by transduction of wild type NDUFS2. A 3-D model of the catalytic core of complex I showed that the mutated amino acid residue resides near the coenzyme Q binding pocket. However, the K(M) of complex I for coenzyme Q analogs of the Asp446Asn mutated complex I was similar to the K(M) observed in other complex I defects and in controls. We propose that the mutation interferes with the reduction of coenzyme Q or with the coupling of coenzyme Q reduction with the conformational changes involved in proton pumping of complex I."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbadis.2011.10.012"xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bbadis.2011.10.012"xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "van den Heuvel L.P."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "van den Heuvel L.P."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Venselaar H."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Venselaar H."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Rodenburg R.J."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Rodenburg R.J."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Wintjes L.T."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Wintjes L.T."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Nijtmans L.G."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Nijtmans L.G."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Willems P.H."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Willems P.H."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Distelmaier F."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Distelmaier F."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Smeitink J.A."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Smeitink J.A."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "van den Brand M.A."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "van den Brand M.A."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Ngu L.H."xsd:string |
| http://purl.uniprot.org/citations/22036843 | http://purl.uniprot.org/core/author | "Ngu L.H."xsd:string |