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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
- Cirulli, Elizabeth;
- Lasseigne, Brittany;
- Petrovski, Slavé;
- Sapp, Peter;
- Dion, Patrick;
- Leblond, Claire;
- Couthouis, Julien;
- Lu, Yi-Fan;
- Wang, Quanli;
- Krueger, Brian;
- Ren, Zhong;
- Keebler, Jonathan;
- Han, Yujun;
- Levy, Shawn;
- Boone, Braden;
- Wimbish, Jack;
- Waite, Lindsay;
- Jones, Angela;
- Carulli, John;
- Day-Williams, Aaron;
- Staropoli, John;
- Xin, Winnie;
- Chesi, Alessandra;
- Raphael, Alya;
- McKenna-Yasek, Diane;
- Cady, Janet;
- Vianney de Jong, J;
- Kenna, Kevin;
- Smith, Bradley;
- Topp, Simon;
- Miller, Jack;
- Gkazi, Athina;
- Al-Chalabi, Ammar;
- van den Berg, Leonard;
- Veldink, Jan;
- Silani, Vincenzo;
- Ticozzi, Nicola;
- Shaw, Christopher;
- Baloh, Robert;
- Appel, Stanley;
- Simpson, Ericka;
- Lagier-Tourenne, Clotilde;
- Pulst, Stefan;
- Gibson, Summer;
- Trojanowski, John;
- Elman, Lauren;
- McCluskey, Leo;
- Grossman, Murray;
- Shneider, Neil;
- Chung, Wendy;
- Ravits, John;
- Glass, Jonathan;
- Sims, Katherine;
- Van Deerlin, Vivianna;
- Maniatis, Tom;
- Hayes, Sebastian;
- Ordureau, Alban;
- Swarup, Sharan;
- Landers, John;
- Baas, Frank;
- Allen, Andrew;
- Bedlack, Richard;
- Harper, J;
- Gitler, Aaron;
- Rouleau, Guy;
- Brown, Robert;
- Harms, Matthew;
- Cooper, Gregory;
- Harris, Tim;
- Myers, Richard;
- Goldstein, David
- et al.
Published Web Location
https://doi.org/10.1126/science.aaa3650Abstract
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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