Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Amino Acid Sequence
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Amino Acid Substitution
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Animals
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Base Sequence
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Brain / metabolism
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COS Cells
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Cell Nucleus / metabolism
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Chromosomes, Human, Pair 1
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Cloning, Molecular
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Cytoplasm / metabolism
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DNA, Complementary
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Exons
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Genes, Recessive
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Humans
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Intracellular Signaling Peptides and Proteins
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Molecular Sequence Data
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Mutation*
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Oncogene Proteins / chemistry
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Oncogene Proteins / genetics*
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Oncogene Proteins / metabolism
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Oxidative Stress
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PC12 Cells
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Parkinsonian Disorders / genetics*
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Parkinsonian Disorders / metabolism
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Pedigree
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Physical Chromosome Mapping
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Point Mutation
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Protein Deglycase DJ-1
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Protein Structure, Secondary
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Rats
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Reverse Transcriptase Polymerase Chain Reaction
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Sequence Deletion
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Transfection
Substances
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DNA, Complementary
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Intracellular Signaling Peptides and Proteins
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Oncogene Proteins
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PARK7 protein, human
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Protein Deglycase DJ-1