Mutations in the <i>DJ-1</i> Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

DOI Web Site 被引用文献107件
  • Vincenzo Bonifati
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Patrizia Rizzu
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Marijke J. van Baren
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Onno Schaap
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Guido J. Breedveld
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Elmar Krieger
    Centre for Molecular and Biomolecular Informatics, University Medical Center Nijmegen, Geert Grooteplein Zuid 30, 6525 GA Nijmegen, Netherlands.
  • Marieke C. J. Dekker
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Ferdinando Squitieri
    Neurogenetics Unit, IRCCS INM Neuromed, Località Camerelle, 86077 Pozzilli, Italy.
  • Pablo Ibanez
    INSERM U 289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.
  • Marijke Joosse
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Jeroen W. van Dongen
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Nicola Vanacore
    Department of Neurological Sciences, “La Sapienza” University, Viale dell'Università30, 00185 Rome, Italy.
  • John C. van Swieten
    Department of Neurology, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, Netherlands.
  • Alexis Brice
    INSERM U 289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.
  • Giuseppe Meco
    Department of Neurological Sciences, “La Sapienza” University, Viale dell'Università30, 00185 Rome, Italy.
  • Cornelia M. van Duijn
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Ben A. Oostra
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.
  • Peter Heutink
    Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands.

書誌事項

公開日
2003-01-10
DOI
  • 10.1126/science.1077209
公開者
American Association for the Advancement of Science (AAAS)

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説明

<jats:p> The <jats:italic>DJ-1</jats:italic> gene encodes a ubiquitous, highly conserved protein. Here, we show that <jats:italic>DJ-1</jats:italic> 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. </jats:p>

収録刊行物

  • Science

    Science 299 (5604), 256-259, 2003-01-10

    American Association for the Advancement of Science (AAAS)

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