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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Why should neuroscientists worry about iron? The emerging role of ferroptosis in the pathophysiology of neuroprogressive diseases.
TL;DR: Mechanisms governing systemic and cellular iron homeostasis, and the related roles of ferritin and mitochondria are detailed, as are mechanisms explaining the negative regulation of ferroptosis.
Journal ArticleDOI
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease.
Dean Louis Pountney,Yue Huang,R.J. Burns,Eric Haan,P.D. Thompson,Peter C. Blumbergs,Wei Ping Gai +6 more
TL;DR: It is suggested that recruitment of SUMO-1 modified proteins into insoluble nuclear inclusions and proteasomal dysfunction may be involved in the pathogenesis of NIs in familial NIID cases.
Journal ArticleDOI
Molecular diagnostics of neurodegenerative disorders
Megha Agrawal,Abhijit Biswas +1 more
TL;DR: Recent advances in molecular diagnostics especially biomarkers and imaging spectroscopy for neurological diseases, and a perspective on the future directions to provide a framework for further developments and refinements to combat neurodegenerative disorders are presented.
Journal ArticleDOI
A pathway based analysis provides additional support for an immune related genetic susceptibility to Parkinson's disease
Peter Holmans,Valentina Moskvina,Lesley Jones,Manu Sharma,Manu Sharma,Alexey Vedernikov,Finja Büchel,Mohamad Saad,Jose Bras,F Bettella,Nayia Nicolaou,Javier Simón-Sánchez,Florian Mittag,J. Raphael Gibbs,Claudia Schulte,Claudia Schulte,Alexandra Durr,Alexandra Durr,Alexandra Durr,Rita Guerreiro,Dena G. Hernandez,Alexis Brice,Hreinn Stefansson,Kari Majamaa,Thomas Gasser,Thomas Gasser,Peter Heutink,Nicholas W. Wood,Maria Martinez,Andrew B. Singleton,Mike A. Nalls,John Hardy,Huw R. Morris,Nigel Williams +33 more
TL;DR: In this paper, a pathway-based analysis was applied to identify biological functions that were significantly enriched for genes containing variants associated with Parkinson's disease, and two independent GWA studies were identified that both had a significant excess in the number of functional categories enriched for PD-associated genes.
Journal ArticleDOI
Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease
TL;DR: The search for answers will drive future research to reach the understanding necessary to provide therapeutic options directed not only at limiting the clinical evolution of symptoms but also finally addressing the pathogenic mechanisms of neurodegeneration in PD.
References
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