Results 31 to 40 of about 9,731 (210)

Impact of CFTR modulator use on outcomes in people with severe cystic fibrosis lung disease

European Respiratory Review, 2020
Drug compounds that augment the production and activity of the cystic fibrosis (CF) transmembrane regulator (CFTR) have revolutionised CF care. Many adults and some children with CF suffer advanced and severe lung disease or await lung transplantation ...
Michal Shteinberg, Jennifer L. Taylor-Cousar   +1 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

Current Progress in Therapeutic Gene Editing for Monogenic Diseases [PDF]

, 2016
Programmable nucleases allow defined alterations in the genome with ease-of-use, efficiency, and specificity. Their availability has led to accurate and widespread genome engineering, with multiple applications in basic research, biotechnology, and ...
Moore, Marc, Prakash, Versha, Yáñez-Muñoz, Rafael J   +2 more
core   +1 more source

Real-world impact of ivacaftor in people with cystic fibrosis and select ivacaftor-responsive mutations

BMJ Open Respiratory Research
Background Ivacaftor approval was extended to people with cystic fibrosis (CF) with ≥1 of 28 additional ivacaftor-responsive mutations in the USA in 2017 based on preclinical in vitro data.
Mark Higgins, Teja Thorat, Craig McKinnon, Alexander Craft   +3 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, Andrea Venerando, Angela Sepe, Anil Mehta, Anna Bossi, Anna Zolin, Antonella Tosco, Boyle MP BS, Carlo A Leone, Daniela De Stefano, Donaldson S., Fabiola De Gregorio, Fischer H, Gianni Bona, Gibson LE, Giuseppe De Rosa, Guido Kroemer, Illek B, Jayaraman S, Kerem B, Kerem Eithan HMO, Laura Salvadori, Legssyer R, Lorenzo A Pinna, Luigi Maiuri, Lukacs G, Maria C Maiuri, Massimo Pettoello-Mantovani, Masvidal L, Pharmaceuticals Cylene, Pharmaceuticals Cylene, Rosa Grassia, Speranza Esposito, Standardization of Spirometry, Stefano Guido, Stern M, Valeria R Villella, Valeria Raia, van Doorninck JH, Villella VR   +39 more
core   +4 more sources

Inhibitory effects of calcium channel blockers nisoldipine and nimodipine on ivacaftor metabolism and their underlying mechanism

Frontiers in Pharmacology
Ivacaftor is the first potentiator of the cystic fibrosis transmembrane conductance regulator (CFTR) protein approved for use alone in the treatment of cystic fibrosis (CF).
Hailun Xia, Xinhao Xu, Jie Chen, Hualu Wu, Yuxin Shen, Xiaohai Chen, Ren-ai Xu, Wenzhi Wu   +7 more
doaj   +1 more source

Alteration of Membrane Cholesterol Content Plays a Key Role in Regulation of Cystic Fibrosis Transmembrane Conductance Regulator Channel Activity

Frontiers in Physiology, 2021
Altered cholesterol homeostasis in cystic fibrosis patients has been reported, although controversy remains. As a major membrane lipid component, cholesterol modulates the function of multiple ion channels by complicated mechanisms.
Guiying Cui, Kirsten A. Cottrill, Kerry M. Strickland, Sarah A. Mashburn, Michael Koval, Nael A. McCarty   +5 more
doaj   +1 more source

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., Avramescu, Radu G., Bagdany, Miklos, Borot, Florence, Finkbeiner, Walter E., Hegedus, Tamas, Lukacs, Gergely L., Perdomo, Doranda, Phuan, Puay-Wah, Szollosi, Daniel, Veit, Guido, Verkman, Alan S., Wu, Yu-Sheng   +12 more
core   +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, Ford, Robert C, Li, Hongyu, Meng, Xin, Rimington, Tracy, Sheppard, David, Wang, Xiaomeng, Wang, Yiting, Wrennall, Joe   +8 more
core   +2 more sources

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source