Article
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
Science (New York, N.Y.) - 10 Jan 2003
Bonifati Vincenzo, Rizzu Patrizia, van Baren Marijke J, Schaap Onno, Breedveld Guido J, Krieger Elmar, Dekker Marieke C J, Squitieri Ferdinando, Ibanez Pablo, Joosse Marijke, van Dongen Jeroen W, Vanacore Nicola, van Swieten John C, Brice Alexis, Meco Giuseppe, van Duijn Cornelia M, Oostra Ben A, Heutink Peter
Abstract excerpt
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...
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