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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The association between Parkinson's disease and melanoma.
TL;DR: A comprehensive review of published literature exploring the association between PD and melanoma concludes that changes in pigmentation including melanin synthesis and/or melan in synthesis enzymes, such as tyrosinase and tyrosine hydroxylase, play important roles in altered vulnerability for both PD and dermatological surveillance.
Journal ArticleDOI
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls
TL;DR: The entire coding region of OMI/HTRA2 is analyzed in a series of North American PD cases with both young- and late-onset disease and in 828 North American neurologically normal controls to show that neither of the variants previously related to PD were associated with PD in this cohort.
Journal ArticleDOI
Polygenic Risk of Parkinson Disease Is Correlated with Disease Age at Onset
Valentina Escott-Price,Mike A. Nalls,Huw R. Morris,Steven J. Lubbe,Alexis Brice,Thomas Gasser,Thomas Gasser,Peter Heutink,Nicholas W. Wood,John Hardy,Andrew B. Singleton,Nigel Williams +11 more
TL;DR: The polygenic architecture of Parkinson disease is investigated and the potential relationship between an individual's polygenic risk score and their disease age at onset is explored.
Journal ArticleDOI
Protein misfolding in neurodegenerative diseases
Eleftherios I Agorogiannis,G. I. Agorogiannis,Alexandros Papadimitriou,Georgios M. Hadjigeorgiou +3 more
TL;DR: Understanding of the biochemical mechanisms involved in protein misfolding and fibrillization may optimize the planning of common therapeutic approaches for neurodegenerative diseases, directed towards reversal of protein mis Folding, blockade of protein oligomerization and interference with the action of toxic proteins.
Journal ArticleDOI
Analysis of the glucocerebrosidase gene in Parkinson's disease
Christine Sato,Angharad R. Morgan,Anthony E. Lang,Shabnam Salehi-Rad,Toshitaka Kawarai,Yan Meng,Peter N. Ray,Lindsay A. Farrer,Peter St George-Hyslop,Peter St George-Hyslop,Ekaterina Rogaeva +10 more
TL;DR: The results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD.
References
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