Article
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.
International journal of molecular sciences - 15 Mar 2022
Sondo Elvira, Cresta Federico, Pastorino Cristina, Tomati Valeria, Capurro Valeria, Pesce Emanuela, Lena Mariateresa, Iacomino Michele, Baffico Ave Maria, Coviello Domenico, Bandiera Tiziano, Zara Federico, Galietta Luis J V, Bocciardi Renata, Castellani Carlo, Pedemonte Nicoletta
Abstract excerpt
Loss-of-function mutations of the CFTR gene cause cystic fibrosis (CF) through a variety of molecular mechanisms involving altered expression, trafficking, and/or activity of the CFTR chloride channel. The most frequent mutation among CF patients, F508del, causes multiple defects that can be, however, overcome by a combination of three pharmacological agents that improve CFTR channel trafficking and gating,...
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