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19 April 2024

» pubmed » pmid12446870

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Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
Vincenzo Bonifati ; 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 ;
Date:	10 Jan 2003
Journal:	Science, 299 (5604), 256-9
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.
Source:	PubMed, pmid12446870 doi: 10.1126/science.1077209
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