Research Article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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Science  27 Mar 2015:
Vol. 347, Issue 6229, pp. 1436-1441
DOI: 10.1126/science.aaa3650

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New players in Lou Gehrig's disease

Amyotrophic lateral sclerosis (ALS), often referred to as “Lou Gehrig's disease,” is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Cirulli et al. sequenced the expressed genes of nearly 3000 ALS patients and compared them with those of more than 6000 controls (see the Perspective by Singleton and Traynor). They identified several proteins that were linked to disease in patients. One such protein, TBK1, is implicated in innate immunity and autophagy and may represent a therapeutic target.

Science, this issue p. 1436; see also p. 1422

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