title: Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
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.
authors.affiliation: 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
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: Patrizia
authors.initials: P
authors.lastname: Rizzu
authors.forename: Marijke J
authors.initials: MJ
authors.lastname: van Baren
authors.forename: Onno
authors.initials: O
authors.lastname: Schaap
authors.forename: Guido J
authors.initials: GJ
authors.lastname: Breedveld
authors.forename: Elmar
authors.initials: E
authors.lastname: Krieger
authors.forename: Marieke C J
authors.initials: MC
authors.lastname: Dekker
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Squitieri
authors.forename: Pablo
authors.initials: P
authors.lastname: Ibanez
authors.forename: Marijke
authors.initials: M
authors.lastname: Joosse
authors.forename: Jeroen W
authors.initials: JW
authors.lastname: van Dongen
authors.forename: Nicola
authors.initials: N
authors.lastname: Vanacore
authors.forename: John C
authors.initials: JC
authors.lastname: van Swieten
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Meco
authors.forename: Cornelia M
authors.initials: CM
authors.lastname: van Duijn
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D019556:COS Cells; D002467:Cell Nucleus / Q000378:metabolism; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D003593:Cytoplasm / Q000378:metabolism; D018076:DNA, Complementary; D005091:Exons; D005808:Genes, Recessive; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D015513:Oncogene Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D018384:Oxidative Stress; D016716:PC12 Cells; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D020161:Physical Chromosome Mapping; D017354:Point Mutation; D000071617:Protein Deglycase DJ-1; D017433:Protein Structure, Secondary; D051381:Rats; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D014162:Transfection
chemical_list: D018076:DNA, Complementary; D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1