Results 31 to 40 of about 11,406 (228)
Modulation of CFTR gating by permeant ions [PDF]
Journal of General Physiology, 2014 Cystic fibrosis transmembrane conductance regulator (CFTR) is unique among ion channels in that after its phosphorylation by protein kinase A (PKA), its ATP-dependent gating violates microscopic reversibility caused by the intimate involvement of ATP hydrolysis in controlling channel closure. Recent studies suggest a gating model featuring an energetic
Yeh, Han-I +2 more
openaire +2 more sources
Mechanisms of endothelial cell dysfunction in cystic fibrosis [PDF]
, 2017 Although cystic fibrosis (CF) patients exhibit signs of endothelial perturbation, the functions of the cystic fibrosis conductance regulator (CFTR) in vascular endothelial cells (EC) are poorly defined.
Anile, Marco +22 more
core +1 more source
CFTR Modulators: From Mechanism to Targeted Therapeutics
, 2022 People with cystic fibrosis (CF) suffer from a multi-organ disorder caused by loss-of-function variants in the gene encoding the epithelial anion channel cystic fibrosis transmembrane conductance regulator (CFTR). Tremendous progress has been made in both basic and clinical sciences over the past three decades since the identification of the CFTR gene.
Sheppard, David N +3 more
openaire +4 more sources
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
Targeted therapies to improve CFTR function in cystic fibrosis [PDF]
, 2015 Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ...
Brodlie, M +3 more
core +2 more sources
The ABCC6 transporter : what lessons can be learnt from other ATP-binding cassette transporters? [PDF]
, 2013 ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- or bidirectional transfer of a large variety of substrates.
De Paepe, Anne +2 more
core +2 more sources
Role of the SLC26A9 chloride channel as disease modifier and potential therapeutic target in cystic fibrosis [PDF]
, 2018 The solute carrier family 26, member 9 (SLC26A9) is an epithelial chloride channel that is expressed in several organs affected in patients with cystic fibrosis (CF) including the lungs, the pancreas, and the intestine. Emerging evidence suggests SLC26A9
Balázs, Anita, Mall, Marcus A.
core +1 more source
From CFTR biology toward combinatorial pharmacotherapy:expanded classification of cystic fibrosis mutations [PDF]
, 2016 More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes.
Avramescu, Radu G. +17 more
core +3 more sources
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression. [PDF]
, 2014 Cystic fibrosis (CF) is caused by mutations in the CF transmembrane regulator (CFTR) that result in reduced anion conductance at the apical membrane of secretory epithelia.
Apaja, Pirjo M. +12 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