Article
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
International journal of molecular sciences - 6 Feb 2023
Zacarias Sónia, Batista Marta S P, Ramalho Sofia S, Victor Bruno L, Farinha Carlos M
Abstract excerpt
Cystic Fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Currently, more than 2100 variants have been identified in the gene, with a large number being very rare. The approval of modulators that act on mutant CFTR protein, correcting its molecular defect and thus alleviating the burden of the disease, revolutionized...
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