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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Book ChapterDOI
Oxidative stress and Parkinson's disease.
TL;DR: The role that oxidative stress contributes to the neurodegenerative process in PD is examined and how it forms part of a broader spectrum of disease-related events that may have commonality with other degenerative disorders is reviewed.
Journal ArticleDOI
Current Perspective of Mitochondrial Biology in Parkinson's Disease
TL;DR: How familial PD-linked genes and environmental factors interface the pathways regulating mitochondrial functions and thereby potentially converge both familial and sporadic PD at the level of mitochondrial integrity is discussed.
Journal ArticleDOI
Roles of distinct cysteine residues in S-nitrosylation and dimerization of DJ-1
TL;DR: It is shown by a systematic mutagenesis analysis that Cys46 and Cys53 of DJ-1, but not Cys106, are susceptible to S-nitrosylation in vitro as well as in cultured cells, indicating that distinct cysteine residues ofDJ-1 harbor differential roles in relation to its structure and function.
Journal ArticleDOI
Recent Findings on the Physiological Function of DJ-1: Beyond Parkinson's Disease
Alice Biosa,Federica Sandrelli,Mariano Beltramini,Elisa Greggio,Luigi Bubacco,Marco Bisaglia +5 more
TL;DR: The experimental evidence, including some very recent findings, supporting the purported neuroprotective role of DJ-1 through different mechanisms linked to oxidative stress handling are critically analysed, as well as the relevance of these processes in the context of Parkinson's disease.
Journal ArticleDOI
Pathogenic considerations in sporadic inclusion-body myositis, a degenerative muscle disease associated with aging and abnormalities of myoproteostasis.
TL;DR: This work reviews the presumably most important known molecular abnormalities that occur in s-IBM myofibers and that likely contribute to s- IBM pathogenesis and suggests interventions in the complex, interwoven pathogenic cascade of s-ibM are suggested.
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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