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
Citations
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Journal ArticleDOI
Antioxidants protect PINK1-dependent dopaminergic neurons in Drosophila
Danling Wang,Li Qian,Hui Xiong,Jiandong Liu,Wendi S. Neckameyer,Sean Oldham,Kun Xia,Jian-Zhi Wang,Rolf Bodmer,Zhuohua Zhang,Zhuohua Zhang +10 more
TL;DR: This paper showed that inactivation of Drosophila PINK1 (dPINK1) using RNAi results in progressive loss of dopaminergic neurons and in ommatidial degeneration of the compound eye.
Journal ArticleDOI
Narrative review: protein degradation and human diseases: the ubiquitin connection.
Eyal Reinstein,Aaron Ciechanover +1 more
TL;DR: The goal of this review is to present the logical progression from basic biological research to the discovery of the UPS and the mechanisms of its action and regulation through the unraveling of aberrations in the system that result in disease, and finally to the development of rational, mechanism-based drugs.
Book ChapterDOI
Phosphatidylethanolamine Metabolism in Health and Disease.
TL;DR: The CDP-ethanolamine and phosphatidylserine decarboxylase pathways occur in different subcellular compartments and are the main sources of PE in cells.
Journal ArticleDOI
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations.
TL;DR: Clinical features of diseases caused by mutations in SNCA cause cognitive or psychiatric symptoms, parkinsonism, dysautonomia and myoclonus with widespread alpha-synuclein pathology in the central and peripheral nervous system.
Journal ArticleDOI
Multiple candidate gene analysis identifies α-synuclein as a susceptibility gene for sporadic Parkinson's disease
Ikuko Mizuta,Wataru Satake,Yuko Nakabayashi,Chiyomi Ito,Satoko Suzuki,Yoshio Momose,Yoshitaka Nagai,Akira Oka,Hidetoshi Inoko,Jiro Fukae,Yuko Saito,Motoji Sawabe,Shigeo Murayama,Mitsutoshi Yamamoto,Nobutaka Hattori,Miho Murata,Tatsushi Toda +16 more
TL;DR: Findings establish SNCA as a definite susceptibility gene for sporadic PD, a major component of Lewy bodies, the pathological hallmark of PD.
References
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Journal ArticleDOI
DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras.
Daisuke Nagakubo,Takahiro Taira,Hirotake Kitaura,Masako Ikeda,Katsuyuki Tamai,Sanae M.M. Iguchi-Ariga,Hiroyoshi Ariga +6 more
TL;DR: DJ-1 showed a cooperative transforming activity with H-Ras, more than 3 times as strong as the activity of ras/myc combination and is suggested to be a novel mitogen-dependent oncogene product involved in a Ras-related signal transduction pathway.
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