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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Book ChapterDOI
Biology of Mitochondria in Neurodegenerative Diseases
TL;DR: Several aspects of mitochondrial biology are reviewed and how mitochondrial pathobiology might contribute to the mechanisms of neurodegeneration in AD, PD, and ALS are reviewed.
Journal ArticleDOI
The Parkinson's disease gene DJ-1 is also a key regulator of stroke-induced damage
Hossein Aleyasin,Maxime W.C. Rousseaux,Maryam Phillips,Raymond H. Kim,Ross J. Bland,Steve M. Callaghan,Ruth S. Slack,Matthew J. During,Tak W. Mak,David S. Park +9 more
TL;DR: This work provides an important example of how a gene seemingly specific for one disease, in this case Parkinson's disease, also appears to be central in other neuropathological conditions such as stroke, and highlights the important commonalities among differing neuropathologies.
Journal ArticleDOI
PINK1/PARKIN signalling in neurodegeneration and neuroinflammation.
TL;DR: The role of mitochondrial dysfunction in disorders such as amyotrophic lateral sclerosis, Alzheimer's, Huntington’s and Parkinson's diseases, as well as eye diseases such as age-related macular degeneration and glaucoma, and the causative factors leading to PINK1/PARKIN-mediated neurodegeneration and neuroinflammation are debated.
Journal ArticleDOI
Evolutionary and functional relationships within the DJ1 superfamily.
TL;DR: DJ-1 may have evolved from the bacterial gene encoding ThiJ kinase, however, as this function has been dispensed with in eukaryotes it appears that the gene has been co-opted for another function.
Journal Article
Proteomic profiling drug-induced apoptosis in non-small cell lung carcinoma: identification of RS/DJ-1 and RhoGDIalpha.
Jeffrey P. MacKeigan,Casey M. Clements,John D. Lich,R. Marshall Pope,Yaacov Hod,Jenny P.-Y. Ting +5 more
TL;DR: The combined treatment of paclitaxel and MEK inhibitor uniquely altered the proteins RS/DJ-1 (RNA-binding regulatory subunit/ DJ-1 PARK7) and RhoGDIalpha (Rho GDP-dissociation inhibitor alpha) and confirmed a role in survival and apoptosis for these proteins.
References
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