Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.

doi:10.1016/j.celrep.2020.108456

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Article

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.

Cell reports - 1 Dec 2020

Cooper-Knock Johnathan, Zhang Sai, Kenna Kevin P, Moll Tobias, Franklin John P, Allen Samantha, Nezhad Helia Ghahremani, Iacoangeli Alfredo, Yacovzada Nancy Y, Eitan Chen, Hornstein Eran, Elhaik Eran, Celadova Petra, Bose Daniel, Farhan Sali, Fishilevich Simon, Lancet Doron, Morrison Karen E, Shaw Christopher E, Al-Chalabi Ammar, Veldink Jan H, Kirby Janine, Snyder Michael P, Shaw Pamela J

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease. CAV1 and CAV2 organize membrane lipid rafts (MLRs) important for cell signaling and neuronal survival, and overexpression of CAV1 ameliorates ALS phenotypes in vivo. Genome-wide association studies localize a large proportion of ALS risk variants within the non-coding genome, but further characterization has been limited by lack...

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PMID: 33264630
DOI: 10.1016/j.celrep.2020.108456
PMCID: PMC7710676

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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