| http://purl.uniprot.org/citations/11956200 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11956200 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11956200 | http://www.w3.org/2000/01/rdf-schema#comment | "Mohr-Tranebjaerg syndrome is a progressive, neurodegenerative disorder caused by loss-of-function mutations in the DDP1/TIMM8A gene. DDP1 belongs to a family of evolutionary conserved proteins that are organized in hetero-oligomeric complexes in the mitochondrial intermembrane space. They mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane. All of them share a conserved Cys(4) metal binding site proposed to be required for the formation of zinc fingers. So far, the only missense mutation known to cause a full-blown clinical phenotype is a C66W exchange directly affecting this Cys(4) motif. Here, we show that the mutant human protein is efficiently imported into mitochondria and sorted into the intermembrane space. In contrast to wild-type DDP1, it does not complement the function of its yeast homologue Tim8. The C66W mutation impairs binding of Zn(2+) ions via the Cys(4) motif. As a consequence, the mutated DDP1 is incorrectly folded and loses its ability to assemble into a hetero-hexameric 70-kDa complex with its cognate partner protein human Tim13. Thus, an assembly defect of DDP1 is the molecular basis of Mohr-Tranebjaerg syndrome in patients carrying the C66W mutation."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m201154200"xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m201154200"xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Neupert W."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Neupert W."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Hofmann S."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Hofmann S."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Bauer M.F."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Bauer M.F."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Brunner M."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Brunner M."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Muehlenbein N."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Muehlenbein N."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Gerbitz K.-D."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Gerbitz K.-D."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Rothbauer U."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/author | "Rothbauer U."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/pages | "23287-23293"xsd:string |
| http://purl.uniprot.org/citations/11956200 | http://purl.uniprot.org/core/pages | "23287-23293"xsd:string |