4.8 Article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

期刊

SCIENCE
卷 347, 期 6229, 页码 1436-1441

出版社

AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aaa3650

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资金

  1. MRC [G9318379, G0500289, MC_G1000733, G0900688, MR/K01014X/1, MR/L021803/1, G1100695, MR/L016397/1] Funding Source: UKRI
  2. Medical Research Council [MR/L016397/1, MR/L501529/1, MR/L021803/1, G1100695, MC_G1000733, MR/K01014X/1, G9318379, G0900688, G0500289] Funding Source: researchfish
  3. Motor Neurone Disease Association [Turner/Jan13/944-795] Funding Source: researchfish
  4. National Institute for Health Research [NF-SI-0512-10082] Funding Source: researchfish
  5. Direct For Mathematical & Physical Scien
  6. Division Of Mathematical Sciences [1309960] Funding Source: National Science Foundation
  7. Medical Research Council [MR/L501529/1, G9318379, G1100695, MR/L016397/1, MC_G1000733, MR/L021803/1, MR/K01014X/1, G0500289, G0900688] Funding Source: Medline
  8. NCATS NIH HHS [UL1 TR001067, TL1 TR001066] Funding Source: Medline
  9. NIA NIH HHS [P01 AG017586, P01 AG032953, P50 AG025688] Funding Source: Medline
  10. NIGMS NIH HHS [T32 GM007754] Funding Source: Medline
  11. NINDS NIH HHS [R37 NS033123, K08 NS075094, R37 NS083524, R01 NS073873] Funding Source: Medline
  12. Wellcome Trust [089701] Funding Source: Medline
  13. Motor Neurone Disease Association [TURNER/JAN13/944-795] Funding Source: Medline

向作者/读者索取更多资源

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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