| http://purl.uniprot.org/citations/11875042 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11875042 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11875042 | http://www.w3.org/2000/01/rdf-schema#comment | "Mohr-Tranebjaerg syndrome (MTS/DFN-1) or deafness/dystonia syndrome results from a mutation in deafness/dystonia protein 1/translocase of mitochondrial inner membrane 8a (DDP1/TIMM8a). DDP1/TIMM8a is similar to a family of yeast proteins in the mitochondrial intermembrane space which mediate the import and insertion of inner membrane proteins. We now show that TIMM8a assembles in a 70 kDa complex in the intermembrane space with TIMM13. DDP1/TIMM8a is not detectable in fibroblasts derived from a patient with a missense mutation in the DDP1/TIMM8a gene; the point mutation results in cysteine-66 being changed to tryptophan-66 in the conserved 'twin CX(3)C' motif. The corresponding mutation in yeast translocase of inner membrane 8p (Tim8p) yields an unstable protein that does not assemble with yeast Tim13p. DDP1/TIMM8a, when expressed with TIMM13 in yeast mitochondria lacking the Tim8p-Tim13p complex, restores Tim23p import, and TIMM8a and TIMM13 can be cross-linked to the hTim23 import intermediate in rat and yeast mitochondria. In a similar manner to Tim8p, TIMM8a seemingly mediates the import of hTim23. Deafness/dystonia syndrome thus may be caused by decreased levels of Tim23 in the mitochondrial inner membrane in affected tissues."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/11.5.477"xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/11.5.477"xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Tranebjaerg L."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Tranebjaerg L."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Koehler C.M."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Koehler C.M."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Curran S.P."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Curran S.P."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Roesch K."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/author | "Roesch K."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/pages | "477-486"xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/pages | "477-486"xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/title | "Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/title | "Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex."xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://purl.uniprot.org/core/volume | "11"xsd:string |
| http://purl.uniprot.org/citations/11875042 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11875042 |
| http://purl.uniprot.org/citations/11875042 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11875042 |