Publication
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Publisher:
American Association for the Advancement of Science (AAAS)
Date:
27-03-2015
DOI:
10.1126/SCIENCE.AAA3650
Abstract: 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