Associated Papers
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
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
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
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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