Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial [PDF]
, 2022 Background: Elexacaftor plus tezacaftor plus ivacaftor is a triple-combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator regimen shown to be generally safe and efficacious in people with cystic fibrosis aged 12 years or older ...
Moskowitz, Samuel M. +46 more
core +1 more source
Cystic Fibrosis: Treatment with CFTR Modulators
, 2023 CFTR modulators have been a groundbreaking new invention starting with the approval of the CFTR corrector Ivacaftor in 2012. Nowadays, up to 90% of CF patients have the potential ability to get treated by an appropriate CFTR modulator. Ivacaftor showed
Westphal, Anna Philine
core +2 more sources
Conformational changes in the catalytically inactive nucleotide-binding site of CFTR. [PDF]
, 2013 A central step in the gating of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel is the association of its two cytosolic nucleotide-binding domains (NBDs) into a head-to-tail dimer, with two nucleotides bound at the ...
Mihályi Csaba +19 more
core +1 more source
Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids
ERJ Open Research, 2022 Introduction Cystic fibrosis (CF) is a severe monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Marjolein M. Ensinck +9 more
doaj +1 more source
Strategies to investigate the mechanism of action of CFTR modulators [PDF]
, 2004 The malfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl− channel is associated with a wide spectrum of disease. In the search for modulators of CFTR, pharmaceutical agents have been identified that (i) act indirectly by ...
Sheppard, David N. +4 more
core +1 more source
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Introduction Deep brain stimulation (DBS) is an effective treatment for refractory obsessive–compulsive disorder (OCD). Neuropsychological assessment contributes to DBS treatment in several ways: it monitors the cognitive safety of the treatment, identifies beneficial or detrimental cognitive side effects and it could aid to explain ...
Tim A. M. Bouwens van der Vlis +7 more
wiley +1 more source
Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators. [PDF]
PLoS ONE, 2016 W1282X is a common nonsense mutation among cystic fibrosis patients that results in the production of a truncated Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Here we show that the channel activity of the W1282X-CFTR polypeptide is
Wei Wang +4 more
doaj +1 more source
The gut-lung axis in the CFTR modulator era
Frontiers in Cellular and Infection Microbiology, 2023 The advent of CFTR modulators represents a turning point in the history of cystic fibrosis (CF) management, changing profoundly the disease’s clinical course by improving mucosal hydration.
Florian Lussac-Sorton +22 more
doaj +1 more source
Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R
Frontiers in Pharmacology, 2020 Understanding the functional consequence of rare cystic fibrosis (CF) mutations is mandatory for the adoption of precision therapeutic approaches for CF. Here we studied the effect of the very rare CF mutation, W361R, on CFTR processing and function.
Arnaud Billet +6 more
doaj +1 more source
The era of CFTR modulators: improvements made and remaining challenges [PDF]
, 2020 The entry into the clinic of CFTR modulators such as TRIKAFTA has significantly improved life for ∼90% CF patients carrying one or two F508del mutations but challenges remain for rare CFTR mutations and the management of lung infections @SaraOcana1 https:
Laselva, Onofrio +3 more
core +1 more source