Associated Papers
Global functional genomics reveals GRK5 as a cystic fibrosis therapeutic target synergistic with current modulators.
Botelho HM et al.
Iscience, 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
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
A small molecule CFTR potentiator restores ATP-dependent channel gating to the cystic fibrosis mutant G551D-CFTR.
Liu J et al.
British Journal of Pharmacology, 2022
Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.
Lopes-Pacheco M et al.
Cells, 2022
Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.
Ramalho SS et al.
International Journal of Molecular Sciences, 2021
Folding Status Is Determinant over Traffic-Competence in Defining CFTR Interactors in the Endoplasmic Reticulum.
Santos JD et al.
Cells, 2019
Structure-guided combination therapy to potently improve the function of mutant CFTRs.
Veit G et al.
Nature Medicine, 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
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
CFTR potentiators partially restore channel function to A561E-CFTR, a cystic fibrosis mutant with a similar mechanism of dysfunction as F508del-CFTR.
Wang Y et al.
British Journal of Pharmacology, 2014
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.
Veit G et al.
Science Translational Medicine, 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
PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan.
Masamune A et al.
Gut, 2014
Genetics of pancreatitis: the 2014 update.
Masamune A
The Tohoku Journal of Experimental Medicine, 2014
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
Thermally unstable gating of the most common cystic fibrosis mutant channel (ΔF508): "rescue" by suppressor mutations in nucleotide binding domain 1 and by constitutive mutations in the cytosolic loops.
Wang W et al.
The Journal of Biological Chemistry, 2011
Cystic fibrosis: CFTR correctors to the rescue.
Sheppard DN
Chemistry & Biology, 2011
The W232R suppressor mutation promotes maturation of a truncation mutant lacking both nucleotide-binding domains and restores interdomain assembly and activity of P-glycoprotein processing mutants.
Loo TW et al.
Biochemistry, 2011
Interplay between ER exit code and domain conformation in CFTR misprocessing and rescue.
Roy G et al.
Molecular Biology of the Cell, 2010
Cooperative assembly and misfolding of CFTR domains in vivo.
Du K et al.
Molecular Biology of the Cell, 2009
Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.
Roxo-Rosa M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
F508del CFTR with two altered RXR motifs escapes from ER quality control but its channel activity is thermally sensitive.
Hegedus T et al.
Biochimica Et Biophysica Acta, 2006
Rescue of functional DeltaF508-CFTR channels by co-expression with truncated CFTR constructs in COS-1 cells.
Owsianik G et al.
Febs Letters, 2003
Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta F508 CFTR present in most patients with cystic fibrosis.
Chang XB et al.
Molecular Cell, 1999