Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Top Cited Papers
- 10 January 2003
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 299 (5604) , 256-259
- https://doi.org/10.1126/science.1077209
Abstract
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.Keywords
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