Article
Integrative genomic meta-analysis reveals novel molecular insights into cystic fibrosis and ΔF508-CFTR rescue.
Scientific reports - 25 Nov 2020
Hodos Rachel A, Strub Matthew D, Ramachandran Shyam, Li Li, McCray Paul B, Dudley Joel T
Abstract excerpt
Cystic fibrosis (CF), caused by mutations to CFTR, leads to severe and progressive lung disease. The most common mutant, ΔF508-CFTR, undergoes proteasomal degradation, extinguishing its anion channel function. Numerous in vitro interventions have been identified to partially rescue ΔF508-CFTR function yet remain poorly understood. Improved understanding of both the altered state of CF cells and the mechanisms of...
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