Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 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
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
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 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
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
CFTR complex alleles and phenotypic variability in cystic fibrosis disease.
El-Seedy A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
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
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis.
Bacalhau M et al.
Pharmaceuticals (basel, Switzerland), 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
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Early Effects of Elexacaftor-Tezacaftor-Ivacaftor Therapy on Magnetic Resonance Imaging in Patients with Cystic Fibrosis and Advanced Lung Disease.
Macconi L et al.
Journal of Clinical Medicine, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Structural Comparative Modeling of Multi-Domain F508del CFTR.
McDonald EF et al.
Biomolecules, 2022
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 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
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
Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.
Chen KG et al.
Drug Discovery Today, 2019
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.
Schucht S et al.
Molecular Genetics & Genomic Medicine, 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
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
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N et al.
Human Mutation, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.
Bagdany M et al.
Nature Communications, 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
The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Diana A et al.
Journal of Human Genetics, 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
Restoration of NBD1 thermal stability is necessary and sufficient to correct ∆F508 CFTR folding and assembly.
He L et al.
Journal of Molecular Biology, 2015
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.
Veit G et al.
Science Translational Medicine, 2014
On the structural organization of the intracellular domains of CFTR.
Moran O
The International Journal of Biochemistry & Cell Biology, 2014
Complement yourself: Transcomplementation rescues partially folded mutant proteins.
Cebotaru L et al.
Biophysical Reviews, 2014
Bithiazole correctors rescue CFTR mutants by two different mechanisms.
Loo TW et al.
Biochemistry, 2013
Effects of the gout-causing Q141K polymorphism and a CFTR ΔF508 mimicking mutation on the processing and stability of the ABCG2 protein.
Sarankó H et al.
Biochemical and Biophysical Research Communications, 2013