Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene
Johnathan Cooper‐Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John Franklin, Samantha Allen, Helia Ghahremani Nezhad, Alfredo Iacoangeli, Nancy Y. Yacovzada, Chen Eitan, Eran Hornstein, Eran Elhaik, Petra Celadova, Daniel Bose, Sali M.K. Farhan, Simon Fishilevich, Doron Lancet, Karen Morrison, Christopher E. Shaw, Ammar Al‐Chalabi, Jan H. Veldink, Janine Kirby, M Snyder, Pamela J. Shaw
Abstract
(Cell Reports 33, 108456-1–108456-8.e1–e5; December 1, 2020) In the originally published version of this article, Eran Elhaik was incorrectly spelled in the author list. The corrected author list appears here and with the article online. The authors regret the error. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk GeneCooper-Knock et al.Cell ReportsDecember 01, 2020In BriefCooper-Knock et al. identify amyotrophic lateral sclerosis (ALS) risk variants within non-coding regulatory DNA linked to a known ALS gene, TBK1, but also CAV1 and CAV2. Disease-associated variants reduce CAV1/CAV2 expression and disrupt membrane lipid rafts with consequences for neurotrophic signaling. CAV1 coding sequence also contains ALS-associated mutations. Full-Text PDF Open Access