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

Bonifati, Vincenzo; Rizzu, Patrizia; J. van Baren, Marijke; Schaap, Onno; J. Breedveld, Guido; Krieger, Elmar; Dekker, Marieke; Squitieri, Ferdinando; Ibáñez, Pablo; Joosse, Marijke; W. van Dongen, Jeroen; Vanacore, Nicola; C. van Swieten, John; Brice, Alexis; Meco, G.; M. van Duijn, Cornelia; A. Oostra, Ben; Heutink, Peter

doi:10.1126/science.1077209

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

Published in Science • Jan 9, 2003

Authors:

Vincenzo Bonifati

Patrizia Rizzu

Marijke J. van Baren

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 in...

Subject

Parkinsonism

Neurodegeneration

Genetics

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