Article

Large-scale Analyses of CAV1 and CAV2 Suggest Their Expression is Higher in Post-mortem ALS Brain Tissue and Affects Survival

2022-11-05

Abstract excerpt

Caveolin-1 and Caveolin-2 (CAV1 and CAV2) are proteins associated with intercellular neurotrophic signalling. There is converging evidence that CAV1 and CAV2 (CAV1/2) genes have a role in ALS. Disease-associated variants have been identified within CAV1/2 enhancers, which reduce gene expression and lead to disruption of membrane lipid rafts. Using large ALS whole-genome sequencing and post-mortem RNA sequencing da...

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Literature Corpus work: 1078ebde-9406-5fbd-92b4-b945a396653a
DOI: 10.1101/2022.11.04.22281798

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