Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A534P
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CFTR

NM_000492.4:p.A534P

Associated Papers

Trikafta restores thermodynamic coupling between two nucleotide binding domains for potentiating CFTR activity.

Wang G

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2026

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

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

Gao X et al.

Nature Communications, 2024

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

Soya N et al.

Nature Communications, 2023

37891162 (PubMed )
Supplement: 41467_2023_42586_MOESM1_ESM.pdf

CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.

McDonald EF et al.

Acs Chemical Biology, 2023

A topological switch in CFTR modulates channel activity and sensitivity to unfolding.

Scholl D et al.

Nature Chemical 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

Activity of lumacaftor is not conserved in zebrafish Cftr bearing the major cystic fibrosis-causing mutation.

Laselva O et al.

Faseb Bioadvances, 2019

Differential thermostability and response to cystic fibrosis transmembrane conductance regulator potentiators of human and mouse F508del-CFTR.

Bose SJ et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2019

Domain-interface dynamics of CFTR revealed by stabilizing nanobodies.

Sigoillot M et al.

Nature Communications, 2019

Cryo-EM Visualization of an Active High Open Probability CFTR Anion Channel.

Fay JF et al.

Biochemistry, 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

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

Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

Vernon RM et al.

The Journal of Biological Chemistry, 2017

Specific stabilization of CFTR by phosphatidylserine.

Hildebrandt E et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Thermal stability of purified and reconstituted CFTR in a locked open channel conformation.

Aleksandrov LA et al.

Protein Expression and Purification, 2015

Exploiting species differences to understand the CFTR Cl- channel.

Bose SJ et al.

Biochemical Society Transactions, 2015

Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.

Cai Z et al.

The Journal of Physiology, 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

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

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 modulation balances thermodynamic stability and restores function of ΔF508 CFTR.

Aleksandrov AA et al.

Journal of Molecular Biology, 2012

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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."