Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways | Zendy

Elizabeth T. Cirulli | Zendy; Brittany N. Lasseigne | Zendy; Slavé Petrovski | Zendy; Peter C. Sapp | Zendy; Patrick A. Dion | Zendy; Claire S. Leblond | Zendy; Julien Couthouis | Zendy; Yifan Lu | Zendy; Quanli Wang | Zendy; Brian J. Krueger | Zendy; Zhong Ren | Zendy; Jonathan Keebler | Zendy; Yujun Han | Zendy; Shawn Levy | Zendy; Braden Boone | Zendy; Jack R. Wimbish | Zendy; Lindsay L. Waite | Zendy; Lindsay Waite Jones | Zendy; John P. Carulli | Zendy; Kelly L. Williams | Zendy; John F. Staropoli | Zendy; Winnie Xin | Zendy; Alessandra Chesi | Zendy; Alya R. Raphael | Zendy; Diane McKennaYasek | Zendy; Janet Cady | Zendy; J.M.B.V. de Jong | Zendy; Kevin P. Kenna | Zendy; Bradley Smith | Zendy; Simon Topp | Zendy; Jack W. Miller | Zendy; Soragia Athina Gkazi | Zendy; Ammar AlChalabi | Zendy; Leonard H. van den Berg | Zendy; Jan H. Veldink | Zendy; Vincenzo Silani | Zendy; Nicola Ticozzi | Zendy; Christopher E. Shaw | Zendy; Robert H. Baloh | Zendy; Stanley H. Appel | Zendy; Ericka Simpson | Zendy; Clotilde LagierTourenne | Zendy; Stefan M. Pulst | Zendy; Summer Gibson | Zendy; John Q. Trojanowski | Zendy; Lauren Elman | Zendy; Leo McCluskey | Zendy; Murray Grossman | Zendy; Neil A. Shneider | Zendy; Wendy K. Chung | Zendy; John Ravits | Zendy; Jonathan D. Glass | Zendy; Katherine B. Sims | Zendy; Vivianna M. Van Deerlin | Zendy; Tom Maniatis | Zendy; Sebastian Hayes | Zendy; Alban Ordureau | Zendy; Sharan Swarup | Zendy; John E. Landers | Zendy; Frank Baas | Zendy; Andrew S. Allen | Zendy; Richard Bedlack | Zendy; J. Wade Harper | Zendy; Aaron D. Gitler | Zendy; Guy A. Rouleau | Zendy; Robert H. Brown | Zendy; Matthew B. Harms | Zendy; Gregory M. Cooper | Zendy; Tim Harris | Zendy; R Myers | Zendy; David B. Goldstein | Zendy

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Author(s) -

Elizabeth T. Cirulli,

Brittany N. Lasseigne,

Slavé Petrovski,

Peter C. Sapp,

Patrick A. Dion,

Claire S. Leblond,

Julien Couthouis,

Yifan Lu,

Quanli Wang,

Brian J. Krueger,

Zhong Ren,

Jonathan Keebler,

Yujun Han,

Shawn Levy,

Braden Boone,

Jack R. Wimbish,

Lindsay L. Waite,

Lindsay Waite Jones,

John P. Carulli,

Kelly L. Williams,

John F. Staropoli,

Winnie Xin,

Alessandra Chesi,

Alya R. Raphael,

Diane McKennaYasek,

Janet Cady,

J.M.B.V. de Jong,

Kevin P. Kenna,

Bradley Smith,

Simon Topp,

Jack W. Miller,

Soragia Athina Gkazi,

Ammar AlChalabi,

Leonard H. van den Berg,

Jan H. Veldink,

Vincenzo Silani,

Nicola Ticozzi,

Christopher E. Shaw,

Robert H. Baloh,

Stanley H. Appel,

Ericka Simpson,

Clotilde LagierTourenne,

Stefan M. Pulst,

Summer Gibson,

John Q. Trojanowski,

Lauren Elman,

Leo McCluskey,

Murray Grossman,

Neil A. Shneider,

Wendy K. Chung,

John Ravits,

Jonathan D. Glass,

Katherine B. Sims,

Vivianna M. Van Deerlin,

Tom Maniatis,

Sebastian Hayes,

Alban Ordureau,

Sharan Swarup,

John E. Landers,

Frank Baas,

Andrew S. Allen,

Richard Bedlack,

J. Wade Harper,

Aaron D. Gitler,

Guy A. Rouleau,

Robert H. Brown,

Matthew B. Harms,

Gregory M. Cooper,

Tim Harris,

R Myers,

David B. Goldstein

Publication year - 2015

Publication title -

science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 12.556

H-Index - 1186

eISSN - 1095-9203

pISSN - 0036-8075

DOI - 10.1126/science.aaa3650

Subject(s) - optineurin , amyotrophic lateral sclerosis , exome sequencing , gene , sequestosome 1 , tank binding kinase 1 , exome , biology , genetics , refseq , innate immune system , autophagy , disease , mutation , bioinformatics , medicine , genome , pathology , immune system , apoptosis , cyclin dependent kinase 2 , cell cycle

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of a moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS. We performed whole-exome sequencing of 2869 ALS patients and 6405 controls. Several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene. TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS. These observations reveal a key role of the autophagic pathway in ALS and suggest specific targets for therapeutic intervention.

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