The deletion of phenylalanine at position 508 (F508del) in cystic fibrosis transmembrane conductance regulator (CFTR) causes a severe defect in folding and trafficking of the chloride channel resulting in its absence at the plasma membrane of epithelial cells leading to cystic fibrosis. Progress in the understanding of the disease increased over the past decades and led to the awareness that combinations of mechanistically different CFTR modulators are required to obtain meaningful clinical benefit. Today, there remains an unmet need for identification and development of more effective CFTR modulator combinations to improve existing therapies for patients carrying the F508del mutation. Here, we describe the identification of a novel F508del...
Cystic fibrosis (CF) is a lethal genetic disease caused by mutations of the gene encoding the cystic...
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance reg...
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane con-ductance re...
The deletion of phenylalanine at position 508 (F508del) in cystic fibrosis transmembrane conductance...
There is still a high unmet need for the treatment of most patients with cystic fibrosis (CF). The i...
The current therapeutic strategy to repair cystic fibrosis-causing defects in the chloride channel C...
More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been...
Tese de doutoramento, Biologia (Biologia de Sistemas), Universidade de Lisboa, Faculdade de Ciências...
More than 2000 mutations in the cystic fibrosis transmembrane conductanceregulator (CFTR) have been ...
Cystic fibrosis (CF), a severe genetic disease, is caused by mutations that alter the structure and ...
Cystic fibrosis (CF) results from mutations in the CF transmembrane conductance regulator (CFTR) gen...
SummaryMisfolding of ΔF508 cystic fibrosis (CF) transmembrane conductance regulator (CFTR) underlies...
Small-molecule therapies that restore defects in cystic fibrosis transmembrane conductance regulator...
Deletion of phenylalanine at position 508 (F508del) in the CFTR chloride channel is the most frequen...
The lack of phenylalanine 508 (ΔF508 mutation) in the cystic fibrosis (CF) transmembrane conductance...
Cystic fibrosis (CF) is a lethal genetic disease caused by mutations of the gene encoding the cystic...
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance reg...
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane con-ductance re...
The deletion of phenylalanine at position 508 (F508del) in cystic fibrosis transmembrane conductance...
There is still a high unmet need for the treatment of most patients with cystic fibrosis (CF). The i...
The current therapeutic strategy to repair cystic fibrosis-causing defects in the chloride channel C...
More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been...
Tese de doutoramento, Biologia (Biologia de Sistemas), Universidade de Lisboa, Faculdade de Ciências...
More than 2000 mutations in the cystic fibrosis transmembrane conductanceregulator (CFTR) have been ...
Cystic fibrosis (CF), a severe genetic disease, is caused by mutations that alter the structure and ...
Cystic fibrosis (CF) results from mutations in the CF transmembrane conductance regulator (CFTR) gen...
SummaryMisfolding of ΔF508 cystic fibrosis (CF) transmembrane conductance regulator (CFTR) underlies...
Small-molecule therapies that restore defects in cystic fibrosis transmembrane conductance regulator...
Deletion of phenylalanine at position 508 (F508del) in the CFTR chloride channel is the most frequen...
The lack of phenylalanine 508 (ΔF508 mutation) in the cystic fibrosis (CF) transmembrane conductance...
Cystic fibrosis (CF) is a lethal genetic disease caused by mutations of the gene encoding the cystic...
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance reg...
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane con-ductance re...