Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

V Bonifati, P Rizzu, MJ Van Baren, O Schaap… - Science, 2003 - science.org
V Bonifati, P Rizzu, MJ Van Baren, O Schaap, GJ Breedveld, E Krieger, MCJ Dekker…
Science, 2003science.org
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 …
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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