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
Oxidative stress and cellular pathologies in Parkinson's disease.
TL;DR: The role of oxidative stress in mediating separate pathological events that together, ultimately result in cell death in PD is discussed.
Journal ArticleDOI
Neurotoxicant-induced animal models of Parkinson’s disease: understanding the role of rotenone, maneb and paraquat in neurodegeneration
TL;DR: This study provides a detailed description of exiting models in which Parkinsonism is initiated via the exposure of animals to such agricultural chemicals as rotenone, paraquat, and maneb, and suggested neurotoxicity mechanisms of these chemicals are considered.
Journal ArticleDOI
The 1.1-Å resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson's disease
TL;DR: The structure suggests that the loss of function caused by the Parkinson's-associated mutation L166P in DJ-1 is due to destabilization of the dimer interface, suggesting the possible involvement of this protein in the cellular oxidative stress response and a general etiology of neurodegenerative diseases.
Journal ArticleDOI
Ferroptosis: mechanisms and links with diseases.
TL;DR: Ferroptosis is an iron-dependent cell death, which is different from apoptosis, necrosis, autophagy, and other forms of cell death as discussed by the authors, which can be prevented by iron chelators and small lipophilic antioxidants (e.g., deferiprone, deferoxamine) and small iron-rich antioxidants such as ferrostatin, liproxstatin.
Journal ArticleDOI
How much phenotypic variation can be attributed to parkin genotype
Ebba Lohmann,Magali Periquet,Vincenzo Bonifati,Nicholas W. Wood,Giuseppe De Michele,Anne-Marie Bonnet,Valérie Fraix,Emmanuel Broussolle,Martin W.I.M. Horstink,Marie Vidailhet,Patrice Verpillat,Thomas Gasser,David Nicholl,Hélio A.G. Teive,Salmo Raskin,Olivier Rascol,Alain Destée,Merle Ruberg,Francesca Gasparini,Giuseppe Meco,Yves Agid,Alexandra Durr,Alexis Brice +22 more
TL;DR: Patients with mutations had significantly earlier and more symmetrical onset, dystonia more often at onset and hyperreflexia, slower progression of the disease, and a tendency toward a greater response to levodopa despite lower doses.
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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