Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1371Q
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CFTR

NM_000492.4:p.E1371Q

Associated Papers

Reconstitution of CFTR ubiquitination identifies lysine-420 as a regulator of cell surface residence and current.

Goeckeler-Fried JL et al.

Biochemistry and Biophysics Reports, 2026

Two distinct mechanisms for GlyH-101 block of the CFTR chloride channel.

Chang YC et al.

The Journal of Physiology, 2026

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

Molecular and pharmacological evaluation of rare, cystic fibrosis-causing missense mutations of the CFTR channel.

Závoti O et al.

The Journal of Physiology, 2025

40785054 (PubMed )
Supplement: TJP-603-5437-s001.pdf

Thermodynamic Coupling between Folding Correctors and the First of Dimerized Nucleotide Binding Domains in CFTR.

Wang G

Acs Bio & Med Chem Au, 2025

Thermodynamic basis for CFTR activity potentiation.

Wang G

Research Square, 2025

Structure of CFTR bound to (R)-BPO-27 unveils a pore-blockage mechanism.

Young PG et al.

Nature Communications, 2025

Thermodynamic coupling between folding correctors and the first of dimerized nucleotide binding domains in CFTR.

Wang G

Research Square, 2025

Trikafta rescues F508del-CFTR by tightening specific phosphorylation-dependent interdomain interactions.

Wang G

Biorxiv : the Preprint Server for Biology, 2025

Discovery and Development of CFTR Modulators for the Treatment of Cystic Fibrosis.

Wang X et al.

Journal of Medicinal Chemistry, 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

The structures of protein kinase A in complex with CFTR: Mechanisms of phosphorylation and noncatalytic activation.

Fiedorczuk K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Allosteric inhibition of CFTR gating by CFTRinh-172 binding in the pore.

Gao X et al.

Nature Communications, 2024

The Folding Pathway of ABC Transporter CFTR: Effective and Robust.

van der Sluijs P et al.

Journal of Molecular Biology, 2024

Structure-based discovery of CFTR potentiators and inhibitors.

Liu F et al.

Cell, 2024

Correction: Role of Hydrophobic Amino-Acid Side-Chains in the Narrow Selectivity Filter of the CFTR Chloride Channel Pore in Conductance and Selectivity.

Linsdell P

The Journal of Membrane Biology, 2024

Functional Consequences of CFTR Interactions in Cystic Fibrosis.

Ramananda Y et al.

International Journal of Molecular Sciences, 2024

Structure-based discovery of CFTR potentiators and inhibitors.

Liu F et al.

Biorxiv : the Preprint Server for Biology, 2024

Structural basis for CFTR inhibition by CFTRinh-172.

Young PG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Structural identification of a selectivity filter in CFTR.

Levring J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Synthesis and Evaluation of Ivacaftor Derivatives with Reduced Lipophilicity.

Iazzi M et al.

Acs Omega, 2023

Role of Hydrophobic Amino-Acid Side-Chains in the Narrow Selectivity Filter of the CFTR Chloride Channel Pore in Conductance and Selectivity.

Linsdell P

The Journal of Membrane Biology, 2023

Folding correctors can restore CFTR posttranslational folding landscape by allosteric domain-domain coupling.

Soya N et al.

Nature Communications, 2023

Folding correctors can restore CFTR posttranslational folding landscape by allosteric domain-domain coupling.

Soya N et al.

Biorxiv : the Preprint Server for Biology, 2023

Estimating the true stability of the prehydrolytic outward-facing state in an ABC protein.

Simon MA et al.

Elife, 2023

Computational Exploration of Potential CFTR Binding Sites for Type I Corrector Drugs.

Lester A et al.

Biochemistry, 2023

Optimization of CFTR gating through the evolution of its extracellular loops.

Simon MA et al.

The Journal of General Physiology, 2023

36723516 (PubMed )
Supplement: JGP_202213264_review_history.pdf

CFTR function, pathology and pharmacology at single-molecule resolution.

Levring J et al.

Nature, 2023

Structure basis of CFTR folding, function and pharmacology.

Hwang TC et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023

Molecular dynamics study of Cl- permeation through cystic fibrosis transmembrane conductance regulator (CFTR).

Zeng ZW et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Mechanistic insights on KATP channel regulation from cryo-EM structures.

Driggers CM et al.

The Journal of General Physiology, 2023

Molecular structures reveal synergistic rescue of Δ508 CFTR by Trikafta modulators.

Fiedorczuk K et al.

Science (new York, N.y.), 2022

Conformational Variability in Ground-State CFTR Lipoprotein Particle Cryo-EM Ensembles.

Aleksandrov LA et al.

International Journal of Molecular Sciences, 2022

Molecular Dynamics and Theratyping in Airway and Gut Organoids Reveal R352Q-CFTR Conductance Defect.

Wong SL et al.

American Journal of Respiratory Cell and Molecular Biology, 2022

Structural Comparative Modeling of Multi-Domain F508del CFTR.

McDonald EF et al.

Biomolecules, 2022

Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

Linsdell P et al.

The Journal of Biological Chemistry, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."