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
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies
Janel O. Johnson,Stephen Hague,Melissa Hanson,Alison M. Gibson,K. E. Wilson,E. W. Evans,Amanda Singleton,Aideen M. McInerney-Leo,Robert L. Nussbaum,Dena G. Hernandez,Marisol Gallardo,Ian G. McKeith,David J. Burn,M. Ryu,O. Hellström,Bernard Ravina,J. Eerola,Robert H. Perry,Evelyn Jaros,Pentti J. Tienari,Roberto Weiser,Katrina Gwinn-Hardy,Christopher Morris,John Hardy,AB Singleton +24 more
TL;DR: The authors assessed 101 familial PD probands, 325 sporadic PD cases, 65 patients with dementia with Lewy bodies, and 366 neurologically normal control subjects for SNCA multiplication and conclude this mutation is a rare cause of disease.
Journal ArticleDOI
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
Ji Feng Guo,Bin Xiao,Bing Liao,Xue Wei Zhang,Li Luo Nie,Yuhu Zhang,Lu Shen,Hong Jiang,Kun Xia,Qian Pan,Xin Xiang Yan,Bei Sha Tang +11 more
TL;DR: Parkin gene mutation is the most common pathogenic factor in Chinese patients with AREP and Mutations of DJ‐1 and PINK1 gene are also found in Chinese families with AREp.
Journal ArticleDOI
PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations
Yasuko Hatano,Kazunobu Sato,Bulent Elibol,Hiroyo Yoshino,Yasuhiro Yamamura,Vincenzo Bonifati,Hitoshi Shinotoh,M. Asahina,S. Kobayashi,A. R. Ng,Raymond L. Rosales,Sharon Hassin-Baer,Yael Shinar,C. S. Lu,H. C. Chang,Yah Huei Wu-Chou,Fatma Belgin Atac,T. Kobayashi,Tatsushi Toda,Yoshikuni Mizuno,Nobutaka Hattori +20 more
TL;DR: The authors performed linkage analysis in 39 families with autosomal recessive early-onset PD negative for parkin and DJ-1 mutations, indicating worldwide distribution of PARK6-linked parkinsonism.
Journal ArticleDOI
The regulatory and signaling mechanisms of the ASK family.
TL;DR: This review focuses on the precise signaling mechanisms of the ASK family in response to diverse stressors and reveals that members of the AsK family are critical for signal transduction systems to control a wide range of stress responses.
Journal ArticleDOI
Recent advances in Parkinson’s disease genetics.
TL;DR: Pathways involved in mitochondrial quality control, lysosomal function and immune function are emerging as important in the pathogenesis of PD and these pathways represent a target for therapeutic intervention and a way in which the heterogeneity of disease cause, as well as disease mechanism, can be established.
References
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Daisuke Nagakubo,Takahiro Taira,Hirotake Kitaura,Masako Ikeda,Katsuyuki Tamai,Sanae M.M. Iguchi-Ariga,Hiroyoshi Ariga +6 more
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