{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T02:13:31Z","timestamp":1792548811168,"version":"4.5.0"},"reference-count":23,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5604","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2003,1,10]]},"abstract":"<jats:p>\n                    The\n                    <jats:italic>DJ-1<\/jats:italic>\n                    gene encodes a ubiquitous, highly conserved protein. Here, we show that\n                    <jats:italic>DJ-1<\/jats:italic>\n                    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.\n                  <\/jats:p>","DOI":"10.1126\/science.1077209","type":"journal-article","created":{"date-parts":[[2003,1,9]],"date-time":"2003-01-09T20:23:05Z","timestamp":1042143785000},"page":"256-259","source":"Crossref","is-referenced-by-count":2406,"title":["Mutations in the\n                    <i>DJ-1<\/i>\n                    Gene Associated with Autosomal Recessive Early-Onset Parkinsonism"],"prefix":"10.1126","volume":"299","author":[{"given":"Vincenzo","family":"Bonifati","sequence":"first","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."},{"name":"Department of Neurological Sciences, \u201cLa Sapienza\u201d University, Viale dell'Universita\u030030, 00185 Rome, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Rizzu","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijke J.","family":"van Baren","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onno","family":"Schaap","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido J.","family":"Breedveld","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elmar","family":"Krieger","sequence":"additional","affiliation":[{"name":"Centre for Molecular and Biomolecular Informatics, University Medical Center Nijmegen, Geert Grooteplein Zuid 30, 6525 GA Nijmegen, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke C. J.","family":"Dekker","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferdinando","family":"Squitieri","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, IRCCS INM Neuromed, Localita\u0300 Camerelle, 86077 Pozzilli, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Ibanez","sequence":"additional","affiliation":[{"name":"INSERM U 289, Ho\u0302pital de la Salpe\u0302trie\u0300re, 47 Boulevard de l'Ho\u0302pital, 75013 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijke","family":"Joosse","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen W.","family":"van Dongen","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Vanacore","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences, \u201cLa Sapienza\u201d University, Viale dell'Universita\u030030, 00185 Rome, Italy."},{"name":"Laboratory of Epidemiology and Biostatistics, National Institute for Health, 00161 Roma, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"van Swieten","sequence":"additional","affiliation":[{"name":"Department of Neurology, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 GD Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[{"name":"INSERM U 289, Ho\u0302pital de la Salpe\u0302trie\u0300re, 47 Boulevard de l'Ho\u0302pital, 75013 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Meco","sequence":"additional","affiliation":[{"name":"Department of Neurological Sciences, \u201cLa Sapienza\u201d University, Viale dell'Universita\u030030, 00185 Rome, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia M.","family":"van Duijn","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben A.","family":"Oostra","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Heutink","sequence":"additional","affiliation":[{"name":"Genetic-Epidemiologic Unit, Department of Clinical Genetics, Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, Post Office Box 1738, 3000 DR Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199810083391506"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.2.179"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/322996"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10106"},{"key":"e_1_3_1_6_2","unstructured":"www.ncbi.nlm.nih.gov"},{"key":"e_1_3_1_7_2","unstructured":"Materials and methods are available as supporting material on Science 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thank the members of the families examined for their participation; P. Chiurazzi E. Fabrizio R. J. Galjaard T. Gasser M. Horstink S. Rossetti L. A. Severijnen P. J. Snijders and C. Wijmenga for their contributions; T. deVries-Lentsch for artwork. This work was funded in part by the Parkinson Disease Foundation\/National Parkinson Foundation (USA) the Princess Beatrix Foundation (Netherlands) the Stichting Klinische Genetica Rotterdam the Netherlands Organization for Scientific Research (NWO) and the Ministero dell'Istruzione Universit\u00e0 e Ricerca (MIUR Italy)."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1077209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T23:35:25Z","timestamp":1704843325000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1077209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1,10]]},"references-count":23,"journal-issue":{"issue":"5604","published-print":{"date-parts":[[2003,1,10]]}},"alternative-id":["10.1126\/science.1077209"],"URL":"https:\/\/doi.org\/10.1126\/science.1077209","relation":{},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,1,10]]}}}