TY - JOUR
T1 - Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
AU - Bonifati, Vincenzo
AU - Rizzu, Patrizia
AU - Van Baren, Marijke J.
AU - Schaap, Onno
AU - Breedveld, Guido J.
AU - Krieger, Elmar
AU - Dekker, Marieke C J
AU - Squitieri, Ferdinando
AU - Ibanez, Pablo
AU - Joosse, Marijke
AU - Van Dongen, Jeroen W.
AU - Vanacore, Nicola
AU - Van Swieten, John C.
AU - Brice, Alexis
AU - Meco, Giuseppe
AU - Van Duijn, Cornelia M.
AU - Oostra, Ben A.
AU - Heutink, Peter
PY - 2003/1/10
Y1 - 2003/1/10
N2 - 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.
AB - 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.
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U2 - 10.1126/science.1077209
DO - 10.1126/science.1077209
M3 - Article
C2 - 12446870
AN - SCOPUS:0037428241
VL - 299
SP - 256
EP - 259
JO - Science
JF - Science
SN - 0036-8075
IS - 5604
ER -