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. 2003 Jan 10;299(5604):256-9.
doi: 10.1126/science.1077209. Epub 2002 Nov 21.

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

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

Vincenzo Bonifati et al. Science. .

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.

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