Associated Papers
Native CFTR codon bias controls translation rate to balance off-pathway aggregation and channel function by conformational imprinting.
Yoon JS et al.
Scientific Reports, 2025
Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.
Rafique H et al.
Journal of Computer-aided Molecular Design, 2025
CRISPR for cystic fibrosis: Advances and insights from a systematic review.
Nicosia L et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Effects of Point Mutations on the Thermal Stability of the NBD1 Domain of hCFTR.
Lublin L et al.
Journal of Chemical Information and Modeling, 2025
Proteostasis landscapes of cystic fibrosis variants reveal drug response vulnerability.
McDonald EF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Global functional genomics reveals GRK5 as a cystic fibrosis therapeutic target synergistic with current modulators.
Botelho HM et al.
Iscience, 2025
Functional rescue of F508del-CFTR through revertant mutations introduced by CRISPR base editing.
Carrozzo I et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review.
Baroni D
Current Issues in Molecular Biology, 2025
Proteostasis Landscapes of Cystic Fibrosis Variants Reveals Drug Response Vulnerability.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2025
PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR.
Ferreira FC et al.
European Journal of Pharmacology, 2024
A uniquely efficacious type of CFTR corrector with complementary mode of action.
Marchesin V et al.
Science Advances, 2024
Organic Synthesis and Current Understanding of the Mechanisms of CFTR Modulator Drugs Ivacaftor, Tezacaftor, and Elexacaftor.
Ferreira FC et al.
Molecules (basel, Switzerland), 2024
Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.
Hong JS et al.
Plos One, 2024
The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing superfunctional protein that can be further enhanced by CFTR modulators.
Chen J et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Identification of novel F508del-CFTR traffic correctors among triazole derivatives.
Bacalhau M et al.
European Journal of Pharmacology, 2023
Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.
Baatallah N et al.
International Journal of Molecular Sciences, 2022
Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.
Farinha CM et al.
Bioscience Reports, 2022
Structural Comparative Modeling of Multi-Domain F508del CFTR.
McDonald EF et al.
Biomolecules, 2022
Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.
Prins S et al.
The Journal of Biological Chemistry, 2022
Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.
Lopes-Pacheco M et al.
Cells, 2022
Co-Translational Folding of the First Transmembrane Domain of ABC-Transporter CFTR is Supported by Assembly with the First Cytosolic Domain.
Kleizen B et al.
Journal of Molecular Biology, 2021
Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator.
Bahia MS et al.
Journal of Chemical Information and Modeling, 2021
Characterization of the mechanism of action of RDR01752, a novel corrector of F508del-CFTR.
Lopes-Pacheco M et al.
Biochemical Pharmacology, 2020
Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions.
Uliyakina I et al.
International Journal of Molecular Sciences, 2020
Biological Characterization of F508delCFTR Protein Processing by the CFTR Corrector ABBV-2222/GLPG2222.
Singh AK et al.
The Journal of Pharmacology and Experimental Therapeutics, 2020
Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.
Ivey G et al.
Plos One, 2020
A defective flexible loop contributes to the processing and gating defects of the predominant cystic fibrosis-causing mutation.
Chen X et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2019
A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.
Villella VR et al.
The Embo Journal, 2019
Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis.
Soya N et al.
Methods in Molecular Biology (clifton, N.j.), 2019
Identification of GLPG/ABBV-2737, a Novel Class of Corrector, Which Exerts Functional Synergy With Other CFTR Modulators.
de Wilde G et al.
Frontiers in Pharmacology, 2019
The structural basis of cystic fibrosis.
Meng X et al.
Biochemical Society Transactions, 2018
ΔF508-CFTR Modulator Screen Based on Cell Surface Targeting of a Chimeric Nucleotide Binding Domain 1 Reporter.
Phuan PW et al.
Slas Discovery : Advancing Life Sciences R & D, 2018
Structural stability of purified human CFTR is systematically improved by mutations in nucleotide binding domain 1.
Yang Z et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Partial rescue of F508del-cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual-acting small molecule.
Liu J et al.
British Journal of Pharmacology, 2018
Substitution of Yor1p NBD1 residues improves the thermal stability of Human Cystic Fibrosis Transmembrane Conductance Regulator.
Xavier BM et al.
Protein Engineering, Design & Selection : Peds, 2017
Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.
Bagdany M et al.
Nature Communications, 2017
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
De Wachter E et al.
Orphanet Journal of Rare Diseases, 2017
Direct Measurement of Trafficking of the Cystic Fibrosis Transmembrane Conductance Regulator to the Cell Surface and Binding to a Chemical Chaperone.
Zhang Z et al.
Biochemistry, 2017
From the endoplasmic reticulum to the plasma membrane: mechanisms of CFTR folding and trafficking.
Farinha CM et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Molecular modelling and molecular dynamics of CFTR.
Callebaut I et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Thermal unfolding simulations of NBD1 domain variants reveal structural motifs associated with the impaired folding of F508del-CFTR.
Estácio SG et al.
Molecular Biosystems, 2016
Non-native Conformers of Cystic Fibrosis Transmembrane Conductance Regulator NBD1 Are Recognized by Hsp27 and Conjugated to SUMO-2 for Degradation.
Gong X et al.
The Journal of Biological Chemistry, 2016
Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.
Chong PA et al.
The Journal of Biological Chemistry, 2015