Associated Papers
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models.
Wang Y et al.
The International Journal of Biochemistry & Cell Biology, 2014
Structural changes of CFTR R region upon phosphorylation: a plastic platform for intramolecular and intermolecular interactions.
Bozoky Z et al.
The Febs Journal, 2013
Enhancing the Potency of F508del Correction: A Multi-Layer Combinational Approach to Drug Discovery for Cystic Fibrosis.
Kirby EF et al.
Journal of Pharmacology & Clinical Toxicology, 2013
Repairing mutated proteins--development of small molecules targeting defects in the cystic fibrosis transmembrane conductance regulator.
Merk D et al.
Expert Opinion on Drug Discovery, 2013
Conformational changes relevant to channel activity and folding within the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.
Hudson RP et al.
The Journal of Biological Chemistry, 2012
C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.
Billet A et al.
The Journal of Biological Chemistry, 2010
Mechanism of direct bicarbonate transport by the CFTR anion channel.
Tang L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2009
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.
Eudes R et al.
Cellular and Molecular Life Sciences : Cmls, 2005
The phenotypic consequences of CFTR mutations.
Rowntree RK et al.
Annals of Human Genetics, 2003
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi JY et al.
Nature, 2001
Functional domain analysis of the yeast ABC transporter Ycf1p by site-directed mutagenesis.
Falcón-Pérez JM et al.
The Journal of Biological Chemistry, 1999
Phosphorylation site independent single R-domain mutations affect CFTR channel activity.
Wei L et al.
Febs Letters, 1998
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A et al.
Human Molecular Genetics, 1998