First Author | Bonifati V | Year | 2003 |
Journal | Science | Volume | 299 |
Issue | 5604 | Pages | 256-9 |
PubMed ID | 12446870 | Mgi Jnum | J:81230 |
Mgi Id | MGI:2448384 | Doi | 10.1126/science.1077209 |
Citation | Bonifati V, et al. (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299(5604):256-9 |
abstractText | The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease. |