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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Parkinson’s Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-Synuclein
Nripesh Dhungel,Simona Eleuteri,Ling bo Li,Ling bo Li,Nicholas J. Kramer,Justin W. Chartron,Brian Spencer,Kori Kosberg,Jerel Adam Fields,Klodjan Stafa,Anthony Adame,Hilal A. Lashuel,Judith Frydman,Kang Shen,Kang Shen,Eliezer Masliah,Aaron D. Gitler +16 more
TL;DR: The studies reveal unexpected genetic and functional interactions between two seemingly unrelated PD genes and functionally connect them to α-synuclein pathobiology in yeast, worms, and mouse.
Journal ArticleDOI
Molecular mechanisms of selective dopaminergic neuronal death in Parkinson's disease
Ari Barzilai,Eldad Melamed +1 more
TL;DR: It is possible that dopaminergic neurogenesis also contributes to the etiology of idiopathic PD, and intracellular as well as extracellular substances found in the SNc are believed to function as damaging pathogenetic factors.
Journal ArticleDOI
Hsp70 Gene Transfer by Adeno-associated Virus Inhibits MPTP-Induced Nigrostriatal Degeneration in the Mouse Model of Parkinson Disease
TL;DR: It is shown that Hsp70 gene transfer to dopamine neurons by a recombinant adeno-associated virus significantly protects the mouse dopaminergic system against MPTP-induced dopamine neuron loss and the associated decline in striatal dopamine levels and tyrosine hydroxylase-positive fibers.
Journal ArticleDOI
Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications.
Nancy J. Butcher,Nancy J. Butcher,Tim-Rasmus Kiehl,Tim-Rasmus Kiehl,Lili-Naz Hazrati,Lili-Naz Hazrati,Eva W.C. Chow,Eva W.C. Chow,Ekaterina Rogaeva,Anthony E. Lang,Anne S. Bassett +10 more
TL;DR: Findings suggest that 22q11.2 deletions represent a novel genetic risk factor for early-onset PD with variable neuropathological presentation reminiscent of LRRK2-associated PD neuropathology.
Journal ArticleDOI
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease.
TL;DR: Parks7, an autosomal recessive form of early-onset parkinsonism caused by mutations in the DJ-1 gene, is focused on and its proposed activity as a molecular chaperone and/or as oxidative sensor appear intriguing in the light of the current theories on the pathogenesis of PD.
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
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