Associated Papers
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination.
Lawrence-Paul MR et al.
Genome Medicine, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.
Villella VR et al.
The Embo Journal, 2019
Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis.
Soya N et al.
Methods in Molecular Biology (clifton, N.j.), 2019
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
On the structural organization of the intracellular domains of CFTR.
Moran O
The International Journal of Biochemistry & Cell Biology, 2014
Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.
Rabeh WM et al.
Cell, 2012
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
Atwell S et al.
Protein Engineering, Design & Selection : Peds, 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
Molecular dynamics analysis of the wild type and dF508 mutant structures of the human CFTR-nucleotide binding domain 1.
Bisignano P et al.
Biochimie, 2010
Molecular basis for the ATPase activity of CFTR.
Cheung JC et al.
Archives of Biochemistry and Biophysics, 2008
Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces.
Mornon JP et al.
Cellular and Molecular Life Sciences : Cmls, 2008
Defining the defect in F508 del CFTR: a soluble problem?
Deber CM et al.
Chemistry & Biology, 2008
A novel computational and structural analysis of nsSNPs in CFTR gene.
George Priya Doss C et al.
Genomic Medicine, 2008
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
Lewis HA et al.
The Journal of Biological Chemistry, 2005
Side chain and backbone contributions of Phe508 to CFTR folding.
Thibodeau PH et al.
Nature Structural & Molecular Biology, 2005