| http://purl.uniprot.org/citations/10944442 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10944442 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10944442 | http://www.w3.org/2000/01/rdf-schema#comment | "Combined OXPHOS-system enzyme deficiencies are observed in approximately 25% of all OXPHOS-system disturbances. Of these, combined complex I and III deficiency is relatively scarce. So far, only mtDNA and thymidine phosphorylase (TP) mutations have been associated with combined OXPHOS-system disturbances. In this report we show, for the first time, that a nuclear gene mutation in a structural, nuclear encoded complex I gene is associated with combined complex I and III deficiency. After our initial report we describe mutations in the NDUFS4 gene of complex I in two additional patients. The first mutation is a deletion of G at position 289 or 290. Amino acid 96 changes from a tryptophan to a stop codon. The mutation was found homozygous in the patient; both parents are heterozygous for the mutation. The second mutation is a transition from C to T at cDNA position 316. Codon is changed from CGA (arginine) to TGA (stop). The patient is homozygous for the mutation; both parents are heterozygous. Both mutations in the NDUFS4 gene led to a premature stop in Leigh-like patients with an early lethal phenotype. We hypothesise that the structural integrity of the OXPHOS system, in mammal supermolecular structures, may be responsible for the observed biochemical features."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.org/dc/terms/identifier | "doi:10.1006/bbrc.2000.3257"xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.org/dc/terms/identifier | "doi:10.1006/bbrc.2000.3257"xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "van den Heuvel L.P."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "van den Heuvel L.P."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Van Coster R."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Van Coster R."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Voit T."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Voit T."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Smeitink J.A."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Smeitink J.A."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Smeets R.J."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Smeets R.J."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Baethmann M."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Baethmann M."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Budde S.M."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Budde S.M."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Buskens C.A."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Buskens C.A."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "DeMeirleir L."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "DeMeirleir L."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Janssen A.J."xsd:string |
| http://purl.uniprot.org/citations/10944442 | http://purl.uniprot.org/core/author | "Janssen A.J."xsd:string |