| http://purl.uniprot.org/citations/16632486 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16632486 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16632486 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in genes encoding both DJ-1 and pten-induced kinase 1 (PINK1) are independently linked to autosomal recessive early-onset familial forms of Parkinson's disease (PD). We here report identification of a family with PD patients harboring novel heterozygous missense mutations in both PINK1 and DJ-1 genes encoding DJ-1A39S and PINK1P399L, respectively. In transfected cells, DJ-1 interacts with PINK1. PINK1P399L is less stable than the wild-type protein and is degraded via the ubiquitin-mediated proteasomal pathway. Expression of wild-type DJ-1 increased steady-state levels of PINK1, whereas expression of DJ-1A39S reduced steady-state levels of PINK1. Furthermore, co-expression of wild-type DJ-1 and PINK1 suppresses neurotoxin 1-methyl-4-phenylpyridinium (MPP(+))-induced death of dopaminergic SH-SY5Y cells. In contrast, co-expression of PD-associated DJ-1A39S and PINK1P399L significantly potentiated susceptibility of SH-SY5Y cells to MPP(+)-induced cell death. This study reports the first case of autosomal recessive PD with digenic inheritance and demonstrates that DJ-1 and PINK1 physically associate and collaborate to protect cells against stress via complex formation."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddl104"xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddl104"xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Hu Z."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Hu Z."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Ma H."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Ma H."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Wang D."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Wang D."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Xiong H."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Xiong H."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Zhang Z."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Zhang Z."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Tang B."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Tang B."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Zhu Z."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Zhu Z."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Sun P."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Sun P."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Pan Q."xsd:string |
| http://purl.uniprot.org/citations/16632486 | http://purl.uniprot.org/core/author | "Pan Q."xsd:string |