PLoS ONE, 2017 We optically measured effects of orally available ivacaftor (Kalydeco®) on sweat rates of identified glands in 3 R117H subjects, each having a unique set of additional mutations, and compared them with 5 healthy control subjects tested contemporaneously.
Jessica E Char +5 more
doaj +1 more source
New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]
, 2017 Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
core +1 more source
Frontiers in Pharmacology, 2023 Background: Ivacaftor, the first CFTR modulator drug, leads to significant long-term improvement in lung function and weight gain. The mechanism as well as the long-term impact of ivacaftor on weight, resting energy expenditure (REE) and body composition
Marialena Mouzaki +6 more
doaj +1 more source
Assembly and functional analysis of an S/MAR based episome with the cystic fibrosis transmembrane conductance regulator gene [PDF]
, 2018 Improving the efficacy of gene therapy vectors is still an important goal toward the development of safe and efficient gene therapy treatments. S/MAR (scaffold/matrix attached region)-based vectors are maintained extra-chromosomally in numerous cell ...
Ascenzioni, Fiorentina +10 more
core +3 more sources
European Respiratory Society International Congress best abstract preview from the allied respiratory professionals from assembly 9 [PDF]
, 2018 The 28th European Respiratory Society (ERS) International Congress [2018] in Paris features interesting research findings within the allied respiratory professional assembly (assembly 9).
Blonshine, Jason +3 more
core +1 more source
Pharmacokinetic and Drug–Drug Interaction Profiles of the Combination of Tezacaftor/Ivacaftor
Clinical and Translational Science, 2019 Drug–drug interaction (DDI) studies are described for tezacaftor/ivacaftor, a new cystic fibrosis transmembrane conductance regulator modulator therapy for the treatment of cystic fibrosis.
Varun Garg +11 more
doaj +1 more source
The potentially beneficial central nervous system activity profile of ivacaftor and its metabolites
ERJ Open Research, 2018 Ivacaftor–lumacaftor and ivacaftor are two new breakthrough cystic fibrosis transmembrane conductance modulators. The interactions of ivacaftor and its two metabolites hydroxymethylivacaftor (iva-M1) and ivacaftorcarboxylate (iva-M6) with ...
Elena K. Schneider +10 more
doaj +1 more source
Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]
, 2014 Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R +39 more
core +4 more sources
Real-World Outcomes Among Patients with Cystic Fibrosis Treated with Ivacaftor: 2012–2016 Experience
Pulmonary Therapy, 2020 Plain Language Summary We performed a study to better understand the long-term impact of treatment with a drug called ivacaftor for patients with cystic fibrosis (CF).
Mark Higgins +4 more
doaj +1 more source
Two Small Molecules Restore Stability to a Sub-population of the Cystic Fibrosis Transmembrane conductance Regulator with the Predominant Disease-causing Mutation [PDF]
, 2017 Cystic fibrosis (CF) is caused by mutations that disrupt the plasma membraneexpression, stability, and function of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.
Cai, Zhiwei +8 more
core +2 more sources