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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Genetic Neuropathology of Parkinson's Disease
TL;DR: The neuropathological data relating to familial cases of PD is reviewed and the complicated relationships between the genetically defined cases and the two key pathological events seen in PD are discussed, namely loss of dopaminergic neurons in the substantia nigra pars compacta and the formation of protein inclusions in the neurons that survive to the end stage of the disease course.
Journal ArticleDOI
Efficient targeted mutagenesis in medaka using custom-designed transcription activator-like effector nucleases.
Satoshi Ansai,Tetsushi Sakuma,Takashi Yamamoto,Hiroyoshi Ariga,Norihito Uemura,Ryosuke Takahashi,Masato Kinoshita +6 more
TL;DR: The results suggest that TALENs enable us to rapidly and efficiently establish knockout medaka strains and will expand the potential of medaka as a model system for genetics and genomics.
Journal ArticleDOI
Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.
TL;DR: A Mini‐Review of the current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2 is looked at.
Journal ArticleDOI
LRRK2: a common pathway for parkinsonism, pathogenesis and prevention?
TL;DR: Understanding the molecular function of the LRRK2 protein and its associated pathways might elucidate the switch between Lewy body pathology and neurofibrillary tangles, and holds promise for prospective therapeutics that might slow or halt progression of many forms of parkinsonism.
Journal ArticleDOI
Oxidation of DJ-1-dependent cell transformation through direct binding of DJ-1 to PTEN.
TL;DR: Results suggest that the oxidative status of DJ-1 regulates PTEN activity, leading to cell proliferation and transformation, and to the presence of the reduced form of C106, which accounts for >50% of the total form.
References
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Journal ArticleDOI
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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