Results 21 to 30 of about 11,543 (240)

CFTR Modulator Therapy for Rare CFTR Mutants

Journal of Respiration, 2022
Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR), a chloride epithelial channel whose dysfunction results in severe airway obstruction and inflammation, eventually leading to respiratory failure.
Marco Mergiotti, Alessandra Murabito, Giulia Prono, Alessandra Ghigo   +3 more
openaire   +2 more sources

Comparative effects of CFTR modulators on phagocytic, metabolic and inflammatory profiles of CF and nonCF macrophages

Scientific Reports, 2023
Macrophage dysfunction has been well-described in Cystic Fibrosis (CF) and may contribute to bacterial persistence in the lung. Whether CF macrophage dysfunction is related directly to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in ...
Daniel S. Aridgides, Diane L. Mellinger, Lorraine L. Gwilt, Thomas H. Hampton, Dallas L. Mould, Deborah A. Hogan, Alix Ashare   +6 more
doaj   +1 more source

Enhanced Expression of Human Epididymis Protein 4 (HE4) Reflecting Pro-Inflammatory Status Is Regulated by CFTR in Cystic Fibrosis Bronchial Epithelial Cells

Frontiers in Pharmacology, 2021
Decreased human epididymis protein 4 (HE4) plasma levels were reported in cystic fibrosis (CF) patients under CFTR potentiator ivacaftor therapy, which inversely correlated with lung function improvement.
Zsolt Bene, Zsolt Bene, Zsolt Bene, Zsolt Fejes, Zsolt Fejes, Tibor Gabor Szanto, Ferenc Fenyvesi, Judit Váradi, Luka A. Clarke, Gyorgy Panyi, Milan Macek, Margarida D. Amaral, István Balogh, István Balogh, Béla Nagy, Béla Nagy   +15 more
doaj   +1 more source

Lived experiences of individuals with cystic fibrosis on CFTR-modulators

BMC Pulmonary Medicine, 2022
Background CFTR-modulators are a category of drugs that facilitate trafficking and opening of the abnormal CFTR protein in individuals with cystic fibrosis (CF) who have certain genetic mutations.
Annelise Page, Aaron Goldenberg, Anne L. Matthews   +2 more
doaj   +1 more source

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, Yeh, Jiunn-Tyng, Hwang, Tzyh-Chang   +2 more
openaire   +2 more sources

S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models

Frontiers in Pediatrics, 2022
Cystic Fibrosis (CF) results from over 400 different disease-causing mutations in the CF Transmembrane Conductance Regulator (CFTR) gene. These CFTR mutations lead to numerous defects in CFTR protein function.
Katelin M. Allan, Katelin M. Allan, Miro A. Astore, Laura K. Fawcett, Laura K. Fawcett, Laura K. Fawcett, Sharon L. Wong, Sharon L. Wong, Po-Chia Chen, Renate Griffith, Adam Jaffe, Adam Jaffe, Adam Jaffe, Serdar Kuyucak, Shafagh A. Waters, Shafagh A. Waters, Shafagh A. Waters, Shafagh A. Waters   +17 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, Elborn, JS, Haq, IJ, Roberts, K   +3 more
core   +4 more sources

The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis

Orphanet Journal of Rare Diseases, 2022
Background Over the past decade, a new class of drugs called CFTR (cystic fibrosis transmembrane conductance regulator) modulators have shown to be able to improve clinical outcomes in patient with Cystic Fibrosis.
Enrico Costa, Silvia Girotti, Francesca Pauro, Hubert G. M. Leufkens, Marco Cipolli   +4 more
doaj   +1 more source

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, Cianci, Eleonora, Del Porto, Paola, Dell'Elba, Giuseppe, Di Silvestre, Sara, Evangelista, Virgilio, Guarnieri, Simone, Lanuti, Paola, Marchisio, Marco, Mari, Veronica C., Mariggiã², Maria A., Moretti, Paolo, Mucilli, Felice, Pandolfi, Assunta, Patruno, Sara, Piccoli, Antonio, Plebani, Roberto, Prioletta, Marco, Recchiuti, Antonio, Romano, Mario, Sacchetti, Silvio, Totani, Licia, Venuta, Federico   +22 more
core   +1 more source

Of muscle modulation and the CFTR gate [PDF]

Journal of General Physiology, 2015
This month’s installment of Generally Physiological considers regulation of excitation–contraction coupling by PIP2 and the investigation of an appealing hypothesis for how a transporter might evolve into a channel.
openaire   +2 more sources