Decreased mRNA and protein stability of W1282X limits response to modulator therapy

M.A. Aksit, A.D. Bowling,T.A. Evans, A.T. Joynt, D. Osorio, S. Patel,N. West, C. Merlo, P.R. Sosnay, G.R. Cutting,N. Sharma

Journal of Cystic Fibrosis(2019)

引用 37|浏览33
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摘要
•W1282X mRNA is severely reduced compared to wild-type in nasal epithelial cells.•Treatment of nasal epithelial cells with NMDI14 increases W1282X transcript levels.•W1282X EMG exhibits defect in mRNA stability and protein production.•CFTR modulators in combination with NMD inhibitor increase truncated CFTR protein.
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