Article
F508del CFTR with two altered RXR motifs escapes from ER quality control but its channel activity is thermally sensitive.
Biochimica et biophysica acta - 1 May 2006
Hegedus Tamás, Aleksandrov Andrei, Cui Liying, Gentzsch Martina, Chang Xiu-Bao, Riordan John R
Abstract excerpt
Most cystic fibrosis (CF) patients carry the F508del mutation in the CFTR chloride channel protein resulting in its misassembly, retention in the endoplasmic reticulum (ER), and proteasomal degradation. Therefore, characterization of the retention and attempts to rescue the mutant CFTR are a majo...
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