Abstract

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
Volume33
Issue number9
DOIs
Publication statusPublished - 1 Dec 2020

Keywords

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

Fingerprint

Dive into the research topics of 'Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene'. Together they form a unique fingerprint.

Cite this