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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Journal ArticleDOI
Oxidative Stress in Parkinson's Disease
TL;DR: Should a similar multifactorial cascade underlie dopaminergic neuron degeneration in PD, then the optimal therapy for this disease may have to rely on a cocktail of agents, each targeting a different critical component of this hypothesized pathogenic cascade.
Journal ArticleDOI
Transcriptional Regulatory Elements in the Human Genome
TL;DR: The methods currently used to identify transcriptional regulatory elements are discussed, and the ability of these methods to be scaled up for the purpose of annotating the entire human genome is discussed.
Journal ArticleDOI
Runs of Homozygosity in European Populations
Ruth McQuillan,Anne-Louise Leutenegger,Rehab Abdel-Rahman,Rehab Abdel-Rahman,Christopher S. Franklin,Marijana Peričić,Lovorka Barac-Lauc,Nina Smolej-Narančić,Branka Janićijević,Ozren Polasek,Ozren Polasek,Albert Tenesa,Andrew K. MacLeod,Susan M. Farrington,Pavao Rudan,Caroline Hayward,Veronique Vitart,Igor Rudan,Igor Rudan,Sarah H. Wild,Malcolm G. Dunlop,Alan F. Wright,Harry Campbell,James F. Wilson +23 more
TL;DR: Using pedigrees to identify individuals with no shared maternal and paternal ancestors in five, and probably at least ten, generations, it is shown that ROHs measuring up to 4 Mb are common in demonstrably outbred individuals.
Journal ArticleDOI
100 years of Lewy pathology
TL;DR: The relevance of Lewy's discovery 100 years ago for the current understanding of PD and related disorders is reviewed.
Journal ArticleDOI
Oxidative Stress: A Key Modulator in Neurodegenerative Diseases.
TL;DR: A need to understand the processes and role of oxidative stress in neurodegenerative diseases is understood, with a focus on the pivotal role played by OS in mitochondrial dysfunction.
References
More filters
Journal ArticleDOI
WHAT IF: A molecular modeling and drug design program
TL;DR: The menu-driven operation of WHAT IF, combined with the use of default values wherever user input is required, makes it very easy to use for a novice user while keeping full flexibility for more sophisticated studies.
Journal ArticleDOI
Twilight zone of protein sequence alignments.
TL;DR: All findings are applicable to automatic database searches and using intermediate sequences for finding links between more distant families was almost as successful: pairs were predicted to be homologous when the respective sequence families had proteins in common.
Journal ArticleDOI
Increasing the precision of comparative models with YASARA NOVA--a self-parameterizing force field.
TL;DR: An all‐atom force field aimed at protein and nucleotide optimization in vacuo (NOVA), which has been specifically designed to avoid this problem and can be applied to modeling applications as well as X‐ray and NMR structure refinement.
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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