Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism |
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| Authors: | 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 |
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| Institution: | Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands. bonifati@kgen.fgg.eur.nl |
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| 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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