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
The Dynamics of the Mitochondrial Organelle as a Potential Therapeutic Target
R. Anne Stetler,R. Anne Stetler,R. Anne Stetler,Rehana K. Leak,Yanqin Gao,Jun Chen,Jun Chen,Jun Chen +7 more
TL;DR: The concept that disruptions in mitochondrial dynamics—biogenesis, clearance, and fission/fusion events—may underlie neural diseases and thus could be targeted as neuroprotective strategies in the context of ischemic injury is put forward.
Journal ArticleDOI
Decision between mitophagy and apoptosis by Parkin via VDAC1 ubiquitination
TL;DR: It is demonstrated that VDAC1 can be either mono- or polyubiquitinated by Parkin in a PINK1-dependent manner, which suggests that V DAC1 monoubiquitination plays important roles in the pathologies of PD by controlling apoptosis.
Journal ArticleDOI
Genetic determinants at the interface of cancer and neurodegenerative disease
TL;DR: The substantial data implicating specific genes in both cancer and neurodegenerative disease is reviewed, including those involving genes such as PARK2, ATM, PTEN, PTPRD, and mTOR.
Journal ArticleDOI
Early involvement of the cerebral cortex in Parkinson's disease: convergence of multiple metabolic defects.
TL;DR: Data demonstrate early involvement of the cerebral cortex in PD due to the convergence of multiple metabolic defects, which is a relative late event, geared to isolate unremoved damaged protein, with little significance on cortical neurological deficits.
Journal ArticleDOI
Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process
Amin Karimi-Moghadam,Saeid Charsouei,Benjamin Bell,Mohammad Reza Jabalameli,Mohammad Reza Jabalameli +4 more
TL;DR: There are many hopes that future large-scale genetics projects provide further insights into the genetic etiology of PD and improve diagnostic accuracy and therapeutic clinical trial designs.
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