Associated Papers
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
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
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
Molecular structures reveal synergistic rescue of Δ508 CFTR by Trikafta modulators.
Fiedorczuk K et al.
Science (new York, N.y.), 2022
Structural Comparative Modeling of Multi-Domain F508del CFTR.
McDonald EF et al.
Biomolecules, 2022
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
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
Ligand binding to a remote site thermodynamically corrects the F508del mutation in the human cystic fibrosis transmembrane conductance regulator.
Wang C et al.
The Journal of Biological Chemistry, 2018
A Proteomic Variant Approach (ProVarA) for Personalized Medicine of Inherited and Somatic Disease.
Hutt DM et al.
Journal of Molecular Biology, 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
Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.
Bagdany M et al.
Nature Communications, 2017
Corrector VX-809 promotes interactions between cytoplasmic loop one and the first nucleotide-binding domain of CFTR.
Loo TW et al.
Biochemical Pharmacology, 2017
Correcting CFTR folding defects by small-molecule correctors to cure cystic fibrosis.
Mijnders M et al.
Current Opinion in Pharmacology, 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
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
Interplay between inhibitory ferric and stimulatory curcumin regulates phosphorylation-dependent human cystic fibrosis transmembrane conductance regulator and ΔF508 activity.
Wang G
Biochemistry, 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
Activation of 3-phosphoinositide-dependent kinase 1 (PDK1) and serum- and glucocorticoid-induced protein kinase 1 (SGK1) by short-chain sphingolipid C4-ceramide rescues the trafficking defect of ΔF508-cystic fibrosis transmembrane conductance regulator (ΔF508-CFTR).
Caohuy H et al.
The Journal of Biological Chemistry, 2014
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.
Veit G et al.
Science Translational Medicine, 2014
Biosynthesis of cystic fibrosis transmembrane conductance regulator.
Pranke IM et al.
The International Journal of Biochemistry & Cell Biology, 2014
Directed evolution of P-glycoprotein cysteines reveals site-specific, non-conservative substitutions that preserve multidrug resistance.
Swartz DJ et al.
Bioscience Reports, 2014
Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D-CFTR.
Xu Z et al.
The Journal of Physiology, 2014
The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.
Loo TW et al.
Biochemical Pharmacology, 2014
The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels.
Young JC
Disease Models & Mechanisms, 2014
VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.
Ren HY et al.
Molecular Biology of the Cell, 2013
Corrector VX-809 stabilizes the first transmembrane domain of CFTR.
Loo TW et al.
Biochemical Pharmacology, 2013
Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction.
Farinha CM et al.
Chemistry & Biology, 2013
Mechanism-based corrector combination restores ΔF508-CFTR folding and function.
Okiyoneda T et al.
Nature Chemical Biology, 2013
Dynamics intrinsic to cystic fibrosis transmembrane conductance regulator function and stability.
Chong PA et al.
Cold Spring Harbor Perspectives in Medicine, 2013
Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.
Hunt JF et al.
Cold Spring Harbor Perspectives in Medicine, 2013
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.
He L et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Allosteric coupling between the intracellular coupling helix 4 and regulatory sites of the first nucleotide-binding domain of CFTR.
Dawson JE et al.
Plos One, 2013
Thermal instability of ΔF508 cystic fibrosis transmembrane conductance regulator (CFTR) channel function: protection by single suppressor mutations and inhibiting channel activity.
Liu X et al.
Biochemistry, 2012
Allosteric modulation balances thermodynamic stability and restores function of ΔF508 CFTR.
Aleksandrov AA et al.
Journal of Molecular Biology, 2012
Disruption of cytokeratin-8 interaction with F508del-CFTR corrects its functional defect.
Colas J et al.
Human Molecular Genetics, 2012
CFTR: folding, misfolding and correcting the ΔF508 conformational defect.
Lukacs GL et al.
Trends in Molecular Medicine, 2012
Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.
Rabeh WM et al.
Cell, 2012
Functional Rescue of F508del-CFTR Using Small Molecule Correctors.
Molinski S et al.
Frontiers in Pharmacology, 2012
Benzbromarone stabilizes ΔF508 CFTR at the cell surface.
Loo TW et al.
Biochemistry, 2011
The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508.
Grove DE et al.
Molecular Biology of the Cell, 2011
Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide-binding domain 1.
Protasevich I et al.
Protein Science : a Publication of the Protein Society, 2010
Integrated biophysical studies implicate partial unfolding of NBD1 of CFTR in the molecular pathogenesis of F508del cystic fibrosis.
Wang C et al.
Protein Science : a Publication of the Protein Society, 2010
The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface.
Loo TW et al.
Biochemistry, 2010
Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry.
Lewis HA et al.
Journal of Molecular Biology, 2010
Cystic fibrosis transmembrane regulator fragments with the Phe508 deletion exert a dual allosteric control over the master kinase CK2.
Pagano MA et al.
The Biochemical Journal, 2010