2003-01-10
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
Publication
Publication
Science , Volume 299 - Issue 5604 p. 256- 259
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.
Additional Metadata | |
---|---|
doi.org/10.1126/science.1077209, hdl.handle.net/1765/54753 | |
Science | |
Organisation | Department of Neurology |
Bonifati, V., Rizzu, P., van Baren, M. J., Schaap, O., Breedveld, G., Krieger, E., … Heutink, P. (2003). Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299(5604), 256–259. doi:10.1126/science.1077209 |