Article
Genetic Inhibition Of The Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated To F508del Cystic Fibrosis Mutation.
Scientific reports - 17 Jul 2015
Tomati Valeria, Sondo Elvira, Armirotti Andrea, Caci Emanuela, Pesce Emanuela, Marini Monica, Gianotti Ambra, Jeon Young Ju, Cilli Michele, Pistorio Angela, Mastracci Luca, Ravazzolo Roberto, Scholte Bob, Ronai Ze'ev, Galietta Luis J V, Pedemonte Nicoletta
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the CFTR chloride channel. Deletion of phenylalanine 508 (F508del), the most frequent CF mutation, impairs CFTR trafficking and gating. F508del-CFTR mistrafficking may be corrected by acting directly on mutant CFTR itself or by modulating expression/activity of CFTR-interacting proteins, that may thus represent potential drug targets. To evaluate possible candidates...
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