Article
Mechanistic Approaches to Improve Correction of the Most Common Disease-Causing Mutation in Cystic Fibrosis.
PloS one - 1 Jan 2016
Bali Vedrana, Lazrak Ahmed, Guroji Purushotham, Matalon Sadis, Bebok Zsuzsanna
Abstract excerpt
The most common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene leads to deletion of the phenylalanine at position 508 (ΔF508) in the CFTR protein and causes multiple folding and functional defects. Contrary to large-scale efforts by industry and academia, no significant therapeutic benefit has been achieved with a single "corrector". Therefore, investigations concentrate on drug...
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