Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Science

Volumn 299, Issue 5604, 2003, Pages 256-259

  Bonifati, Vincenzo ^a,b   Rizzu, Patrizia ^a   Van Baren, Marijke J ^a   Schaap, Onno ^a   Breedveld, Guido J ^a   Krieger, Elmar ^c   Dekker, Marieke C J ^a   Squitieri, Ferdinando ^d   Ibanez, Pablo ^e   Joosse, Marijke ^a   Van Dongen, Jeroen W ^a   Vanacore, Nicola ^b,f   Van Swieten, John C ^a   Brice, Alexis ^e   Meco, Giuseppe ^b   Van Duijn, Cornelia M ^a   Oostra, Ben A ^a   Heutink, Peter ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d IRCCS NEUROMED   (Italy)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; GENES; NEUROLOGY; PROTEINS;

OXIDATIVE STRESS ANALYSIS;

MUTAGENESIS;

GENE; NERVOUS SYSTEM DISORDER;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DISEASE ASSOCIATION; DJ 1 GENE; GENE; GENE FUNCTION; GENE MUTATION; GENETIC CODE; HUMAN; NERVE DEGENERATION; ONSET AGE; OXIDATIVE STRESS; PARKINSON DISEASE; PARKINSONISM; PATHOGENESIS; PRIORITY JOURNAL;

ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; BRAIN; CELL NUCLEUS; CHROMOSOMES, HUMAN, PAIR 1; CLONING, MOLECULAR; COS CELLS; CYTOPLASM; DNA, COMPLEMENTARY; EXONS; GENES, RECESSIVE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; ONCOGENE PROTEINS; OXIDATIVE STRESS; PARKINSONIAN DISORDERS; PC12 CELLS; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY; RATS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; TRANSFECTION;

EID: 0037428241     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1077209     Document Type: Article

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23. We 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, Università e Ricerca (MIUR, Italy).