| http://purl.uniprot.org/citations/15961413 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15961413 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15961413 | http://www.w3.org/2000/01/rdf-schema#comment | "Recently targeted disruption of Omi/HtrA2 has been found to cause neurodegeneration and a parkinsonian phenotype in mice. Using a candidate gene approach, we performed a mutation screening of the Omi/HtrA2 gene in German Parkinson's disease (PD) patients. In four patients, we identified a novel heterozygous G399S mutation, which was absent in healthy controls. Moreover, we identified a novel A141S polymorphism that was associated with PD (P<0.05). Both mutations resulted in defective activation of the protease activity of Omi/HtrA2. Immunohistochemistry and functional analysis in stably transfected cells revealed that S399 mutant Omi/HtrA2 and to a lesser extent, the risk allele of the A141S polymorphism induced mitochondrial dysfunction associated with altered mitochondrial morphology. Cells overexpressing S399 mutant Omi/HtrA2 were more susceptible to stress-induced cell death than wild-type. On the basis of functional genomics, our results provide a novel link between mitochondrial dysfunction and neurodegeneration in PD."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddi215"xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddi215"xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Mueller T."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Mueller T."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Riess O."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Riess O."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Berg D."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Berg D."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Downward J."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Downward J."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Krueger R."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Krueger R."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Wolburg H."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Wolburg H."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Gasser T."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Gasser T."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Bornemann A."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Bornemann A."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Plun-Favreau H."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Plun-Favreau H."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Schulz J.B."xsd:string |
| http://purl.uniprot.org/citations/15961413 | http://purl.uniprot.org/core/author | "Schulz J.B."xsd:string |