Article
Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects.
Cells - 19 Mar 2020
Ensinck Marjolein, De Keersmaecker Liesbeth, Heylen Lise, Ramalho Anabela S, Gijsbers Rik, Farré Ricard, De Boeck Kris, Christ Frauke, Debyser Zeger, Carlon Marianne S
Abstract excerpt
Background. The most common CFTR mutation, F508del, presents with multiple cellular defects. However, the possible multiple defects caused by many rarer CFTR mutations are not well studied. We investigated four rare CFTR mutations E60K, G85E, E92K and A455E against well-characterized mutations, F508del and G551D, and their responses to corrector VX-809 and/or potentiator VX-770. Methods. Using complementary...
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