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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Decreased DJ-1 Leads to Impaired Nrf2-Regulated Antioxidant Defense and Increased UV-A–Induced Apoptosis in Corneal Endothelial Cells
TL;DR: The decline in DJ-1 levels leads to heightened CEC susceptibility to UV-A light by activating p53-dependent apoptosis, and targeting theDJ-1-Nrf2 axis may provide a potential therapeutic approach for enhancing antioxidant defense in corneal endothelial disorders.
Journal ArticleDOI
PET neuroimaging and mutations in the DJ-1 gene
Marieke C. J. Dekker,Silvia Eshuis,RP Maguire,L. Veenma-van der Duijn,Jan Pruim,P.J.L.M. Snijders,Ben A. Oostra,C M van Duijn,Klaus L. Leenders +8 more
TL;DR: Mutations in the DJ-1 gene lead to autosomal recessive early-onset parkinsonism, with reduced F-DOPA uptake concordant with typical Parkinson’s disease and in the, clinically unaffected, heterozygous relatives, F- DOPA metabolism was unremarkable, thus not suggesting a dosage effect of the DJThe1 gene.
Journal ArticleDOI
Neuroprotective effect of a new DJ-1-binding compound against neurodegeneration in Parkinson's disease and stroke model rats
Yoshihisa Kitamura,Shotaro Watanabe,Masanobu Taguchi,Kentaro Takagi,Takuya Kawata,Kazuko Takahashi-Niki,Hiroyuki Yasui,Hiroshi Maita,Sanae M.M. Iguchi-Ariga,Hiroyoshi Ariga +9 more
TL;DR: The results indicate that comp-23 exerts a neuroprotective effect by reducing ROS-mediated neuronal injury, suggesting thatComp-23 becomes a lead compound for PD and ischemic neurodegeneration therapies.
Journal ArticleDOI
Copper(II) binding by fragments of α-synuclein containing M1-D2-and -H50-residues; a combined potentiometric and spectroscopic study
TL;DR: The potentiometric and spectroscopic data show that acetylation of the amino terminal group induces significant changes in the coordination properties of the L3 fragment compared to that of theL2 peptide, suggesting the formation of 3N and 4N complexes (in equatorial plane) and the involvement of the lateral NH2 group of Lys residue in the axial coordination of Cu(II) ion.
Journal ArticleDOI
Knocking Out DJ-1 Attenuates Astrocytes Neuroprotection Against 6-Hydroxydopamine Toxicity
TL;DR: It is demonstrated that lack of DJ-1 impairs astrocyte-mediated neuroprotection, thereby leading to accelerated neuronal damage in Parkinson’s disease.
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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