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Publication : Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

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.
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