Journal ArticleDOI
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Vincenzo Bonifati,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.F. van Dongen,Nicola Vanacore,Nicola Vanacore,John C. van Swieten,Alexis Brice,Giuseppe Meco,Cornelia M. van Duijn,Ben A. Oostra,Peter Heutink +19 more
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TLDR
It is shown that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism, and these findings indicate that loss ofDJ-1 function leads to neurodegeneration.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.read more
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Mitochondrial alterations in Parkinson's disease: new clues.
TL;DR: A recent wave of new studies is providing novel clues to the potential involvement of mitochondria in Parkinson’s disease and holds the promise as a potential molecular target for the development of new therapeutic strategies for this devastating, currently incurable, disease.
Journal ArticleDOI
Mitochondria-Lysosome Crosstalk: From Physiology to Neurodegeneration.
TL;DR: Mechanisms of crosstalk between mitochondria and lysosomes are discussed, both under physiological conditions and in diseases that affect these organelles.
Journal ArticleDOI
Using zebrafish to assess the impact of drugs on neural development and function.
TL;DR: The past, present and future of using zebrafish to assess the impact of small molecule drugs on neural development and function are discussed, in light of understanding and treating neurodevelopmental disorders such as autism, neurodegenerative disorders including Alzheimer's, Parkinson's and Huntington's disease and neural system dysfunctions such as anxiety/depression and addiction.
Journal ArticleDOI
Analysis of heat-shock protein 70 gene polymorphisms and the risk of Parkinson’s disease
Yih Ru Wu,Cheng Kuang Wang,Chiung Mei Chen,Yuying Hsu,Sih Jing Lin,Yi Ying Lin,Hon Chung Fung,Kuo-Hsuan Chang,Guey Jen Lee-Chen +8 more
TL;DR: In this paper, the authors investigated the association of polymorphisms −110 A/C, +190 CC, +1267 A/G, +2074 G/C and +2437 G/c in the 5' and coding regions of the HSP70-1, HSP-2, and HSP 70-hom genes with the risk of Parkinson's disease.
Journal ArticleDOI
Parkinson’s disease: piecing together a genetic jigsaw
TL;DR: A review of advances in the genetics of Parkinson's disease, focusing on the monogenic forms and their clinical and population-genetic consequences, and a defect in another signalling pathway for mutations in NR4A2.
References
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Daisuke Nagakubo,Takahiro Taira,Hirotake Kitaura,Masako Ikeda,Katsuyuki Tamai,Sanae M.M. Iguchi-Ariga,Hiroyoshi Ariga +6 more
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