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

Project MinE ALS Sequencing Consortium

Research output: Contribution to journalArticlepeer-review


Cooper-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.

Original languageEnglish
Article number108456
JournalCell Reports
Issue number9
StatePublished - 1 Dec 2020


FundersFunder number
Doddie Foundation
European Union's Horizon 2020 research and innovation program
MND Association
NIHR Sheffield Biomedical Research Centre for Translational Neuroscience
National Institute of Neurological Disorders and StrokeR01NS073873
Wellcome Trust216596/Z/19/Z, 213501/Z/18/Z
Horizon 2020 Framework Programme772376 - EScORIAL
EU Joint Programme – Neurodegenerative Disease Research
Medical Research CouncilMR/R024804/1, MR/L501529/1
Economic and Social Research CouncilES/L008238/1
National Institute for Health Research
European Research Council


    • CAV1
    • CAV2
    • amyotrophic lateral sclerosis
    • gene enhancers
    • membrane lipid rafts
    • non-coding DNA
    • whole-genome sequencing


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