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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.

Original publication

DOI

10.1126/science.1077209

Type

Journal article

Journal

Science (New York, N.Y.)

Publication Date

01/2003

Volume

299

Pages

256 - 259

Addresses

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

Keywords

Brain, COS Cells, PC12 Cells, Chromosomes, Human, Pair 1, Cell Nucleus, Cytoplasm, Animals, Humans, Rats, Parkinsonian Disorders, Intracellular Signaling Peptides and Proteins, Oncogene Proteins, DNA, Complementary, Physical Chromosome Mapping, Cloning, Molecular, Transfection, Amino Acid Substitution, Reverse Transcriptase Polymerase Chain Reaction, Pedigree, Sequence Deletion, Amino Acid Sequence, Base Sequence, Protein Structure, Secondary, Oxidative Stress, Genes, Recessive, Mutation, Point Mutation, Alleles, Exons, Molecular Sequence Data, Protein Deglycase DJ-1