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

Cell-based studies have shown that W1282X generates a truncated protein that can be functionally augmented by modulators. However, modulator treatment of primary cells from individuals who carry two copies of W1282X generates no functional CFTR. To understand the lack of response to modulators, we investigated the effect of W1282X on CFTR RNA transcript levels.

Source: Journal of Cystic Fibrosis - February 22, 2019 Category: Respiratory Medicine Authors: 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 Tags: Original Article Source Type: research