Journal ArticleDOI
O1-7-4-1Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
Wataru Satake,Ikuko Mizuta,Michiaki Kubo,Takahisa Kawaguchi,Tatsuhiko Tsunoda,Takeo Yoshikawa,Saburo Sakoda,Mitsutoshi Yamamoto,Nobutaka Hattori,Miho Murata,Yusuke Nakamura,Tatsushi Toda +11 more
TLDR
Clinical and genetic information of 5 Japanese patients with Bardet-Biedl syndrome is summarized and it is found that rare liver fibrosis was detected in two patients, while only two patients had renal dysfunction, thought to be a universal symptom.About:
This article is published in Neuroscience Research.The article was published on 2010-01-01. It has received 456 citations till now.read more
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Journal ArticleDOI
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Javier Simón-Sánchez,Claudia Schulte,Jose Bras,Jose Bras,Manu Sharma,J. Raphael Gibbs,J. Raphael Gibbs,Daniela Berg,Coro Paisán-Ruiz,Peter Lichtner,Sonja W. Scholz,Sonja W. Scholz,Dena G. Hernandez,Dena G. Hernandez,Rejko Krüger,Monica Federoff,Christine Klein,Alison Goate,Joel S. Perlmutter,Michael Bonin,Mike A. Nalls,Thomas Illig,Christian Gieger,Henry Houlden,Michael Steffens,Michael S. Okun,Brad A. Racette,Mark R. Cookson,Kelly D. Foote,Hubert H. Fernandez,Bryan J. Traynor,Stefan Schreiber,Sampath Arepalli,Ryan R. Zonozi,Katrina Gwinn,Marcel P. van der Brug,Marcel P. van der Brug,Grisel Lopez,Stephen J. Chanock,Arthur Schatzkin,Yikyung Park,Albert R. Hollenbeck,Jianjun Gao,Xuemei Huang,Nicholas W. Wood,Delia Lorenz,Günther Deuschl,Honglei Chen,Olaf Riess,John Hardy,Andrew B. Singleton,Thomas Gasser +51 more
TL;DR: It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided.
Journal ArticleDOI
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
Mike A. Nalls,Nathan Pankratz,Christina M. Lill,Chuong B. Do,Dena G. Hernandez,Dena G. Hernandez,Mohamad Saad,Mohamad Saad,Mohamad Saad,Anita L. DeStefano,Anita L. DeStefano,Eleanna Kara,Jose Bras,Manu Sharma,Claudia Schulte,Margaux F. Keller,Sampath Arepalli,Christopher Letson,Connor Edsall,Hreinn Stefansson,Xinmin Liu,Hannah A. Pliner,Joseph H. Lee,Rong Cheng,M. Arfan Ikram,John P. A. Ioannidis,Georgios M. Hadjigeorgiou,Joshua C. Bis,Maria Martinez,Maria Martinez,Joel S. Perlmutter,Alison Goate,Karen Marder,Brian K. Fiske,Margaret Sutherland,Georgia Xiromerisiou,Richard H. Myers,Lorraine N. Clark,Kari Stefansson,John Hardy,Peter Heutink,Honglei Chen,Nicholas W. Wood,Henry Houlden,Haydeh Payami,Alexis Brice,Alexis Brice,William K. Scott,Thomas Gasser,Lars Bertram,Nicholas Eriksson,Tatiana Foroud,Andrew B. Singleton +52 more
TL;DR: This article conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls.
Journal ArticleDOI
100 years of Lewy pathology
TL;DR: The relevance of Lewy's discovery 100 years ago for the current understanding of PD and related disorders is reviewed.
Book ChapterDOI
Etiology and Pathogenesis of Parkinson’s Disease
Taku Hatano,Nobutaka Hattori +1 more
TL;DR: Genetic factors clearly contribute to the pathogenesis of Parkinson’s disease, and many studies have shed light on their implication in, not only monogenic, but also sporadic forms of PD.
Journal ArticleDOI
The Genetics of Alzheimer Disease: Back to the Future
TL;DR: It seems likely that much of the heritability of AD continues to remain unexplained by the currently known disease genes, and much of this "missing heritability" may be accounted for by rare sequence variants, which, owing to recent advances in high-throughput sequencing technologies, can be assessed in unprecedented detail.
References
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Journal ArticleDOI
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Javier Simón-Sánchez,Claudia Schulte,Jose Bras,Jose Bras,Manu Sharma,J. Raphael Gibbs,J. Raphael Gibbs,Daniela Berg,Coro Paisán-Ruiz,Peter Lichtner,Sonja W. Scholz,Sonja W. Scholz,Dena G. Hernandez,Dena G. Hernandez,Rejko Krüger,Monica Federoff,Christine Klein,Alison Goate,Joel S. Perlmutter,Michael Bonin,Mike A. Nalls,Thomas Illig,Christian Gieger,Henry Houlden,Michael Steffens,Michael S. Okun,Brad A. Racette,Mark R. Cookson,Kelly D. Foote,Hubert H. Fernandez,Bryan J. Traynor,Stefan Schreiber,Sampath Arepalli,Ryan R. Zonozi,Katrina Gwinn,Marcel P. van der Brug,Marcel P. van der Brug,Grisel Lopez,Stephen J. Chanock,Arthur Schatzkin,Yikyung Park,Albert R. Hollenbeck,Jianjun Gao,Xuemei Huang,Nicholas W. Wood,Delia Lorenz,Günther Deuschl,Honglei Chen,Olaf Riess,John Hardy,Andrew B. Singleton,Thomas Gasser +51 more
TL;DR: It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided.
Journal ArticleDOI
100 years of Lewy pathology
TL;DR: The relevance of Lewy's discovery 100 years ago for the current understanding of PD and related disorders is reviewed.
Book ChapterDOI
Etiology and Pathogenesis of Parkinson’s Disease
Taku Hatano,Nobutaka Hattori +1 more
TL;DR: Genetic factors clearly contribute to the pathogenesis of Parkinson’s disease, and many studies have shed light on their implication in, not only monogenic, but also sporadic forms of PD.
Journal ArticleDOI
The Genetics of Alzheimer Disease: Back to the Future
TL;DR: It seems likely that much of the heritability of AD continues to remain unexplained by the currently known disease genes, and much of this "missing heritability" may be accounted for by rare sequence variants, which, owing to recent advances in high-throughput sequencing technologies, can be assessed in unprecedented detail.
Journal ArticleDOI
Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases
Martin Steger,Francesca Tonelli,Genta Ito,Paul Davies,Matthias Trost,Melanie Vetter,Stefanie Wachter,Esben Lorentzen,Graham Duddy,Stephen S. Wilson,Marco A. S. Baptista,Brian K. Fiske,Matthew J. Fell,John A. Morrow,Alastair D. Reith,Dario R. Alessi,Matthias Mann +16 more
TL;DR: This work employs a combination of phosphoproteomics, genetics, and pharmacology to unambiguously identify a subset of Rab GTPases as key LRRK2 substrates and a novel regulatory mechanism of Rabs that connects them to PD.
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