[HTML][HTML] Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination

G Veit, A Roldan, MA Hancock, DF Da Fonte, H Xu… - JCI insight, 2020 - ncbi.nlm.nih.gov
Based on its clinical benefits, Trikafta—the combination of folding correctors VX-661
(tezacaftor), VX-445 (elexacaftor), and the gating potentiator VX-770 (ivacaftor)—was FDA …

SARS-CoV-2 (COVID-19) and cystic fibrosis

BA Stanton, TH Hampton… - American Journal of …, 2020 - journals.physiology.org
Cystic fibrosis (CF) is a genetic disease caused by mutations in the CFTR gene. Although
viral respiratory tract infections are, in general, more severe in patients with CF compared …

The role of CFTR in the eye, and the effect of early highly effective modulator treatment for cystic fibrosis on eye health

EK Schneider-Futschik, Y Zhu, D Li… - Progress in Retinal and …, 2024 - Elsevier
Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that plays a crucial
role in various human organs, including the respiratory and digestive systems. Dysfunctional …

Proteostasis regulators in cystic fibrosis: current development and future perspectives

I Brusa, E Sondo, F Falchi, N Pedemonte… - Journal of Medicinal …, 2022 - ACS Publications
In cystic fibrosis (CF), the deletion of phenylalanine 508 (F508del) in the CF transmembrane
conductance regulator (CFTR) leads to misfolding and premature degradation of the mutant …

L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and organoids …

S Lo Cicero, G Castelli, G Blaconà, SM Bruno… - Respiratory …, 2023 - Springer
Cystic fibrosis (CF) is caused by defects of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene. CFTR-modulating drugs may overcome specific defects, such as the …

[HTML][HTML] L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and …

SL Cicero, G Castelli, G Blaconà, SM Bruno… - Respiratory …, 2023 - ncbi.nlm.nih.gov
Cystic fibrosis (CF) is caused by defects of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene. CFTR-modulating drugs may overcome specific defects, such as the …

Revisiting CFTR interactions: old partners and new players

CM Farinha, M Gentzsch - International Journal of Molecular Sciences, 2021 - mdpi.com
Remarkable progress in CFTR research has led to the therapeutic development of
modulators that rescue the basic defect in cystic fibrosis. There is continuous interest in …

The effect of sodium bicarbonate, a beneficial adjuvant molecule in cystic fibrosis, on bronchial epithelial cells expressing a wild-type or mutant CFTR channel

I Gróf, A Bocsik, A Harazin, AR Santa-Maria… - International Journal of …, 2020 - mdpi.com
Clinical and experimental results with inhaled sodium bicarbonate as an adjuvant therapy in
cystic fibrosis (CF) are promising due to its mucolytic and bacteriostatic properties, but its …

A proteomic survey of the cystic fibrosis transmembrane conductance regulator surfaceome

M Iazzi, S Sadeghi, GD Gupta - International Journal of Molecular …, 2023 - mdpi.com
The aim of this review article is to collate recent contributions of proteomic studies to cystic
fibrosis transmembrane conductance regulator (CFTR) biology. We summarize advances …

How to determine the mechanism of action of CFTR modulator compounds: A gateway to theranostics

MD Amaral - European Journal of Medicinal Chemistry, 2021 - Elsevier
The greatest challenge of 21st century biology is to fully understand mechanisms of disease
to drive new approaches and medical innovation. Parallel to this is the huge biomedical …