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

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

doi:10.1126/science.1077209

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

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

IRCCS Casa Sollievo della Sofferenza

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	256-259
Number of pages	4
Journal	Science
Volume	299
Issue number	5604
DOIs	https://doi.org/10.1126/science.1077209
Publication status	Published - Jan 10 2003

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Bonifati, V., Rizzu, P., Van Baren, M. J., Schaap, O., Breedveld, G. J., Krieger, E., Dekker, M. C. J., Squitieri, F., Ibanez, P., Joosse, M., Van Dongen, J. W., Vanacore, N., Van Swieten, J. C., Brice, A., Meco, G., Van Duijn, C. M., Oostra, B. A., & Heutink, P. (2003). Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299(5604), 256-259. https://doi.org/10.1126/science.1077209

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. / Bonifati, Vincenzo; Rizzu, Patrizia; Van Baren, Marijke J.; Schaap, Onno; Breedveld, Guido J.; Krieger, Elmar; Dekker, Marieke C J; Squitieri, Ferdinando; Ibanez, Pablo; Joosse, Marijke; Van Dongen, Jeroen W.; Vanacore, Nicola; Van Swieten, John C.; Brice, Alexis; Meco, Giuseppe; Van Duijn, Cornelia M.; Oostra, Ben A.; Heutink, Peter.

In: Science, Vol. 299, No. 5604, 10.01.2003, p. 256-259.

Research output: Contribution to journal › Article

Bonifati, V, Rizzu, P, Van Baren, MJ, Schaap, O, Breedveld, GJ, Krieger, E, Dekker, MCJ, Squitieri, F, Ibanez, P, Joosse, M, Van Dongen, JW, Vanacore, N, Van Swieten, JC, Brice, A, Meco, G, Van Duijn, CM, Oostra, BA & Heutink, P 2003, 'Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism', Science, vol. 299, no. 5604, pp. 256-259. https://doi.org/10.1126/science.1077209

Bonifati, Vincenzo ; Rizzu, Patrizia ; Van Baren, Marijke J. ; Schaap, Onno ; Breedveld, Guido J. ; Krieger, Elmar ; Dekker, Marieke C J ; Squitieri, Ferdinando ; Ibanez, Pablo ; Joosse, Marijke ; Van Dongen, Jeroen W. ; Vanacore, Nicola ; Van Swieten, John C. ; Brice, Alexis ; Meco, Giuseppe ; Van Duijn, Cornelia M. ; Oostra, Ben A. ; Heutink, Peter. / Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. In: Science. 2003 ; Vol. 299, No. 5604. pp. 256-259.

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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.",

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AU - Breedveld, Guido J.

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