Results 41 to 50 of about 11,543 (240)

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, Jeong S Hong, Andras Rab, Eric J Sorscher, Kevin L Kirk   +4 more
doaj   +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., Balch, William E., Brodsky, Jeffrey L., Cai, Zhiwei, Chiang, Annette N., Cutting, Garry R., Cyr, Douglas M., Frizzell, Raymond A., Guggino, William B., Hong, Jeong S., Houck, Scott A., Lukacs, Gergely L., Peters, Kathryn W., Pollard, Harvey B., Sheppard, David, Skach, William R., Sorscher, Eric J., Veit, Gudio   +17 more
core   +3 more sources

Peroxisome Proliferator-Activated Receptor alpha (PPAR alpha) down-regulation in cystic fibrosis lymphocytes [PDF]

, 2006
Background: PPARs exhibit anti-inflammatory capacities and are potential modulators of the inflammatory response. We hypothesized that their expression and/or function may be altered in cystic fibrosis (CF), a disorder characterized by an excessive host ...
C Hubeau, RB Moss, P Reineck, AA Ionescu, LS Nixon, ME Poynter, P Delerive, SW Chung, BM Forman, W Wahli, JD Tugwood, JM Shipley, A Madej, JP Despres, N Marx, B Staels, Z Israelian-Konaraki, A Trifilieff, MA Birrell, M Roulet, PM Farrell, AP Sampson, JT Zakrzewski, J Carlstedt-Duke, SD Freedman, SM Loitsch, KA Kreuzer, JL Su, JD Dignam, TP Dean, K Balough, TZ Khan, A Augarten, F Akbiyik, I Inoue, DC Jones, P Greally, E Dagli, TA Waldmann, JH Parmentier, K Beier, C Andersson, M Ollero, H Pall, G Chinetti, PR Devchand, N Marx, AE Lovett-Racke, A Linden, F McAllister, RB Moss, RB Moss, C Hubeau, RU Sorensen   +53 more
core   +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, Ahmad Elbahnsi, Mathilde Jollivet-Souchet, Brice Hoffmann, Jean-Paul Mornon, Isabelle Callebaut, Frédéric Becq   +6 more
doaj   +1 more source

Advances in bronchiectasis:endotyping, genetics, microbiome, and disease heterogeneity [PDF]

, 2018
Bronchiectasis is characterised by pathological dilation of the airways. More specifically, the radiographic demonstration of airway enlargement is the common feature of a heterogeneous set of conditions and clinical presentations.
Chalmers, James D., Flume, Patrick A., Olivier, Kenneth N.   +2 more
core   +2 more sources

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, Yeh, Han-I, Sutcliffe, Katy, Hwang, Tzyh-Chang   +3 more
openaire   +3 more sources

New drugs, new challenges in cystic fibrosis care

European Respiratory Review
Cystic fibrosis (CF) is a genetic disease caused by variants in the gene encoding for the CF transmembrane conductance regulator (CFTR) protein, a chloride and bicarbonate channel.
Isabelle Fajac, Pierre-Régis Burgel, Clémence Martin   +2 more
doaj   +1 more source

Ligand-based virtual-screening identified a novel CFTR ligand which improves the defective cell surface expression of misfolded ABC transporters

Frontiers in Pharmacology
Cystic fibrosis (CF) is a monogenetic disease caused by the mutation of CFTR, a cAMP-regulated Cl− channel expressing at the apical plasma membrane (PM) of epithelia.
Shogo Taniguchi, Francois Berenger, Yukako Doi, Ayana Mimura, Yoshihiro Yamanishi, Tsukasa Okiyoneda   +5 more
doaj   +1 more source

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

The Journal of Clinical Investigation, 2022
The vast majority of people with cystic fibrosis (CF) are now eligible for CF transmembrane regulator (CFTR) modulator therapy. The remaining individuals with CF harbor premature termination codons (PTCs) or rare CFTR variants with limited treatment ...
Rhianna E. Lee, Catherine A. Lewis, Lihua He, Emily C. Bulik-Sullivan, Samuel C. Gallant, Teresa M. Mascenik, Hong Dang, Deborah M. Cholon, Martina Gentzsch, Lisa C. Morton, John T. Minges, Jonathan W. Theile, Neil A. Castle, Michael R. Knowles, Adam J. Kimple, Scott H. Randell   +15 more
doaj   +1 more source

Experience to date with CFTR modulators during pregnancy and breastfeeding in the British Columbia Cystic Fibrosis clinic

Respiratory Medicine Case Reports, 2022
The introduction and rapid uptake of CFTR modulator therapy, in addition to other treatments, has significantly increased life expectancy in CF and provided more women the opportunity to consider and successfully be managed throughout pregnancy. There is
Jodi Goodwin, Bradley S. Quon, Pearce G. Wilcox   +2 more
doaj   +1 more source