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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




Journal article


Science (New York, N.Y.)

Publication Date





256 - 259


Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.


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