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

Bonifati, Vincenzo; Rizzu, Patrizia; van Baren, Marijke Jeltje; Schaap, Onno; Breedveld, Guido; Krieger, Elmar; Dekker, Marieke; Squitieri, Ferdinando; Ibanez, P.; Joosse, Marijke; van Dongen, Jeroen; Vanacore, Nicola; van Swieten, John; Brice, A.; Meco, Giuseppe; van Duijn, Cornelia; Oostra, Ben; Heutink, Peter

doi:10.1126/science.1077209

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.

Additional Metadata
Persistent URL	doi.org/10.1126/science.1077209, hdl.handle.net/1765/54753
Journal	Science
Organisation	Department of Neurology
Citation APA Style AAA Style APA Style Cell Style Chicago Style Harvard Style IEEE Style MLA Style Nature Style Vancouver Style American-Institute-of-Physics Style Council-of-Science-Editors Style BibTex Format Endnote Format RIS Format CSL Format DOIs only Format	Bonifati, V., Rizzu, P., van Baren, M. J., Schaap, O., Breedveld, G., Krieger, E., … Heutink, P. (2003). Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299(5604), 256–259. doi:10.1126/science.1077209

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

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

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