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

被引：2164

作者：

Bonifati, V

Rizzu, P

van Baren, MJ

Schaap, O

Breedveld, GJ

Krieger, E

Dekker, MCJ

Squitieri, F

Ibanez, P

Joosse, M

van Dongen, JW

Vanacore, N

van Swieten, JC

Brice, A

Meco, G

van Duijn, CM

Oostra, BA

Heutink, P

机构：

[1] Erasmus MC, Dept Epidemiol & Biostat, Dept Clin Genet, Genet Epidemiol Unit, NL-3000 DR Rotterdam, Netherlands

[2] Univ Roma La Sapienza, Dept Neurol Sci, I-00185 Rome, Italy

[3] Univ Med Ctr Nijmegen, Ctr Mol & Biomol Informat, NL-6525 GA Nijmegen, Netherlands

[4] IRCCS INM Neuromed, Neurogenet Unit, I-86077 Pozzilli, Italy

[5] Hop La Pitie Salpetriere, INSERM, U289, F-75013 Paris, France

[6] Natl Inst Hlth, Epidemiol & Biostat Lab, I-00161 Rome, Italy

[7] Erasmus MC, Dept Neurol, NL-3015 GD Rotterdam, Netherlands

来源：

SCIENCE | 2003年 / 299卷 / 5604期

关键词：

D O I：

10.1126/science.1077209

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：256 / 259

页数：4

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