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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

Publication Date

10/01/2003

Volume

299

Pages

256 - 259

Keywords

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