Associated Papers
ATP-dependent thermoring basis for the heat unfolding of the first nucleotide-binding domain isolated from human CFTR.
Wang G
Research Square, 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
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
Cho SH et al.
Bmc Medical Genomics, 2023
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Chernykh V et al.
International Journal of Molecular Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
The bidirectional relationship between CFTR and lipids.
Cottrill KA et al.
Communications Biology, 2020
Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.
Petrova G et al.
Molecular Genetics & Genomic Medicine, 2019
Altering intracellular pH reveals the kinetic basis of intraburst gating in the CFTR Cl- channel.
Chen JH et al.
The Journal of Physiology, 2017
Conserved allosteric hot spots in the transmembrane domains of cystic fibrosis transmembrane conductance regulator (CFTR) channels and multidrug resistance protein (MRP) pumps.
Wei S et al.
The Journal of Biological Chemistry, 2014
ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.
Randak CO et al.
The Journal of Biological Chemistry, 2013
Defective adenosine-stimulated cAMP production in cystic fibrosis airway epithelia: a novel role for CFTR in cell signaling.
Watson MJ et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
AAV exploits subcellular stress associated with inflammation, endoplasmic reticulum expansion, and misfolded proteins in models of cystic fibrosis.
Johnson JS et al.
Plos Pathogens, 2011
Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.
Chen JH et al.
The Journal of Biological Chemistry, 2009
Misassembled mutant DeltaF508 CFTR in the distal secretory pathway alters cellular lipid trafficking.
Gentzsch M et al.
Journal of Cell Science, 2007
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.
Randak C et al.
Cell, 2003
On the mechanism of MgATP-dependent gating of CFTR Cl- channels.
Vergani P et al.
The Journal of General Physiology, 2003
Role of CFTR's PDZ1-binding domain, NBF1 and Cl(-) conductance in inhibition of epithelial Na(+) channels in Xenopus oocytes.
Boucherot A et al.
Biochimica Et Biophysica Acta, 2001
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
ATP hydrolysis-coupled gating of CFTR chloride channels: structure and function.
Zou X et al.
Biochemistry, 2001
CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.
Wilkinson DJ et al.
The Journal of General Physiology, 1996
Sequence homologies between nucleotide binding regions of CFTR and G-proteins suggest structural and functional similarities.
Manavalan P et al.
Febs Letters, 1995
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
Verlingue C et al.
Human Mutation, 1995
Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains.
Anderson MP et al.
Science (new York, N.y.), 1992
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Gregory RJ et al.
Molecular and Cellular Biology, 1991