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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Mitochondrial dysfunction and loss of Parkinson's disease-linked proteins contribute to neurotoxicity of manganese-containing welding fumes
Krishnan Sriram,Gary X. Lin,Amy M. Jefferson,Jenny R. Roberts,Oliver Wirth,Yusuke Hayashi,Kristine Krajnak,Joleen M. Soukup,Andrew J. Ghio,Steven H. Reynolds,Vincent Castranova,Albert E. Munson,James M. Antonini +12 more
TL;DR: This work investigated the association of PD-linked (Park) genes and mitochondrial function in causing dopaminergic abnormality in rats exposed to manual metal arc-hard surfacing fumes and found altered expression of Parkin, Uchl1, and Dj1 proteins in dopamine brain areas.
Journal ArticleDOI
Nanotechnology-mediated nose to brain drug delivery for Parkinson's disease: a mini review
Abhijeet D. Kulkarni,Yogesh H. Vanjari,Karan H Sancheti,Veena S. Belgamwar,Sanjay J. Surana,Chandrakantsing V. Pardeshi +5 more
TL;DR: In the authors' opinion, nanotechnology-enabled naso-brain drug delivery is an excellent means of delivering neurotherapeutics and is a promising avenue for researchers to develop new formulations for the effective management of PD.
Journal ArticleDOI
Anti-Oxidants in Parkinson's Disease Therapy: A Critical Point of View.
TL;DR: This review evaluates the current literature that links oxidative stress and mitochondrial dysfunction to Parkinson's disease, and considers the results obtained through the treatment of animal models or PD patients with molecules that prevent oxidative stress or reduce mitochondrial dysfunction.
Journal ArticleDOI
DJ-1 links muscle ROS production with metabolic reprogramming and systemic energy homeostasis in mice
Sally Yu Shi,Sally Yu Shi,Shun Yan Lu,Tharini Sivasubramaniyam,Tharini Sivasubramaniyam,Xavier S. Revelo,Erica P. Cai,Erica P. Cai,Cynthia T. Luk,Cynthia T. Luk,Stephanie A. Schroer,Prital Patel,Prital Patel,Raymond H. Kim,Eric Bombardier,Joe Quadrilatero,A. Russell Tupling,Tak W. Mak,Daniel A. Winer,Minna Woo,Minna Woo +20 more
TL;DR: It is demonstrated that, in the absence of DJ-1, ROS uncouple mitochondrial respiration and activate AMP-activated protein kinase, which triggers Warburg-like metabolic reprogramming in muscle cells, andDJ-1 knockout mice exhibit higher energy expenditure and are protected from obesity, insulin resistance and diabetes in the setting of fuel surplus.
Journal ArticleDOI
Huntington’s disease–like 2 can present as chorea-acanthocytosis
Ruth H. Walker,Astrid Rasmussen,Dobrila D. Rudnicki,Susan E. Holmes,Elisa Alonso,Tohru Matsuura,Tetsuo Ashizawa,B. Davidoff-Feldman,Russell L. Margolis +8 more
TL;DR: Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-3 gene associated with Huntington’s disease–like 2 (HDL2).
References
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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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