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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Oxidative Status of DJ-1-dependent Activation of Dopamine Synthesis through Interaction of Tyrosine Hydroxylase and 4-Dihydroxy-l-phenylalanine (l-DOPA) Decarboxylase with DJ-1
Shizuma Ishikawa,Takahiro Taira,Takeshi Niki,Kazuko Takahashi-Niki,Chinatsu Maita,Hiroshi Maita,Hiroyoshi Ariga,Sanae M.M. Iguchi-Ariga +7 more
TL;DR: It was found thatDJ-1 directly bound to TH and DDC and positively regulated their activities in human dopaminergic cells and indicate an essential role of DJ-1 in dopamine synthesis and contribution of DJ -1 to the sporadic form of PD.
Journal ArticleDOI
Essential control of mitochondrial morphology and function by chaperone-mediated autophagy through degradation of PARK7
Bao Wang,Zhibiao Cai,Kai Tao,Weijun Zeng,Fangfang Lu,Ruixin Yang,Dayun Feng,Guodong Gao,Qian Yang +8 more
TL;DR: A mechanism by which CMA protects mitochondrial function by degrading nonfunctional PARK7 and maintaining its homeostasis is revealed, and dysregulation of this pathway may contribute to the neuronal stress and death in PD pathogenesis.
Journal ArticleDOI
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
Roberta Marongiu,Francesco Brancati,Angelo Antonini,Tamara Ialongo,Caterina Ceccarini,Oronzo Scarciolla,Anna Capalbo,Riccardo Benti,Gianni Pezzoli,Bruno Dallapiccola,Stefano Goldwurm,Enza Maria Valente +11 more
TL;DR: This report reports a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs.
Journal ArticleDOI
DJ-1 Could Predict Worse Prognosis in Esophageal Squamous Cell Carcinoma
Hiu-Fung Yuen,Yuen-Piu Chan,Simon Law,Gopesh Srivastava,Mohamed El-Tanani,Tak-Wah Mak,Kwok Wah Chan +6 more
TL;DR: DJ-1 plays a very important role in transformation and progression of ESCC and may be used as a prognostic marker in ESCC, and results suggest that T4 stage and DJ-1 are independent predictors of patient survival.
Journal ArticleDOI
Is the ubiquitin-proteasome system impaired in Huntington’s disease?
TL;DR: It seems that mutant huntingtin, probably in intermediate aggregate forms, has the potential to inhibit proteasome activity, but the global status of the system in HD brain tissue is not yet fully elucidated.
References
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