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Article

Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2023

Tomati Valeria, Costa Stefano, Capurro Valeria, Pesce Emanuela, Pastorino Cristina, Lena Mariateresa, Sondo Elvira, Di Duca Marco, Cresta Federico, Cristadoro Simona, Zara Federico, Galietta Luis J V, Bocciardi Renata, Castellani Carlo, Lucanto Maria Cristina, Pedemonte Nicoletta

Abstract excerpt

BACKGROUND: Cystic fibrosis is caused by mutations impairing expression, trafficking, stability and/or activity of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. The G1244E mutation causes a severe gating defect that it is not completely rescued by ivacaftor but requires the use of a second compound (a co-potentiator). Recently, it has been proposed that the corrector elexacaftor...

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Identifiers

PMID: 36543707
DOI: 10.1016/j.jcf.2022.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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