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

Research output: Contribution to journalArticlepeer-review

Project MinE ALS Sequencing Consortium

Original languageEnglish
Article number108456
JournalCell Reports
Issue number9
Published1 Dec 2020

King's Authors


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.

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