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
Genetic zebrafish models of neurodegenerative diseases.
Oliver Bandmann,Edward A. Burton +1 more
TL;DR: The data suggest that the zebrafish can be an appropriate setting in which to model the molecular events underlying human neuropsychiatric disease.
Journal ArticleDOI
Pathogenesis of familial Parkinson's disease: new insights based on monogenic forms of Parkinson's disease.
TL;DR: Recent progress in knowledge about the genes associated with familial PD is reviewed, revealing that PD‐associated genes play important roles in cellular functions, such as mitochondrial functions, ubiquitin‐proteasomal system, autophagy‐lysosomal pathway and membrane trafficking.
Journal ArticleDOI
DJ-1 suppresses ferroptosis through preserving the activity of S-adenosyl homocysteine hydrolase.
Ji Cao,Xiaobing Chen,Li Jiang,Bin Lu,Meng Yuan,Difeng Zhu,Hong Zhu,Qiaojun He,Bo Yang,Meidan Ying +9 more
TL;DR: The authors show that DJ-1 suppresses ferroptosis through the transsulfuration pathway to compensate for the depletion of intracellular cysteine when cystine import is inhibited.
Journal ArticleDOI
Brain CHIP: removing the culprits in neurodegenerative disease.
TL;DR: These findings suggest that aggregate formation might be an adaptive stress response that is facilitated by neuronal protein triage molecules, and understanding the mechanisms that are involved in CHIP-mediated protein trafficking might provide invaluable clues to neuronal function.
Journal ArticleDOI
From structure to redox: The diverse functional roles of disulfides and implications in disease
TL;DR: The critical roles of disulfide bonds in protein structure stabilization and redox regulation of protein activity are addressed and their relevance to human disease is addressed.
References
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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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