Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency.

No abstract is available for this paper.

• Publication year

  1995

• Venue

  EMBO Journal

• Publication date

  1995-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/j.1460-2075.1995.tb07069.xPMID 7534226PMCID PMC398160
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The Two Nucleotide-binding Domains of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Have Distinct Functions in Controlling Channel Activity (*)

  1995cited by this paper
• Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.

  1994cited by this paper
• Effect of ATP concentration on CFTR Cl- channels: a kinetic analysis of channel regulation.

  1994cited by this paper
• Correlation between genotype and phenotype in patients with cystic fibrosis.

  1994cited by this paper
• The amino-terminal portion of CFTR forms a regulated Cl- channel.

  1994cited by this paper
• Expression of cystic fibrosis transmembrane conductance regulator in a model epithelium.

  1994cited by this paper
• Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator.

  1993cited by this paper
• Mutations in CFTR associated with mild-disease-form CI- channels with altered pore properties

  1993cited by this paper
• Multi-ion pore behaviour in the CFTR chloride channel

  1993cited by this paper
• The cystic fibrosis transmembrane conductance regulator.

  1993cited by this paper
• The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells.

  1993cited by this paper
• Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.

  1992cited by this paper
• Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains.

  1992cited by this paper
• Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

  1992cited by this paper
• Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia

  1992cited by this paper
• Genetic determination of exocrine pancreatic function in cystic fibrosis.

  1992cited by this paper
• Cystic fibrosis transmembrane conductance regulator: A chloride channel with novel regulation

  1992cited by this paper
• Cystic fibrosis: molecular biology and therapeutic implications.

  1992cited by this paper
• Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.

  1992cited by this paper
• Calcium and cAMP activate different chloride channels in the apical membrane of normal and cystic fibrosis epithelia.

  1991cited by this paper
• Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

  1991cited by this paper
• Nucleoside triphosphates are required to open the CFTR chloride channel.

  1991cited by this paper
• Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation.

  1991cited by this paper
• Expression and characterization of the cystic fibrosis transmembrane conductance regulator

  1990cited by this paper
• Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

  1990cited by this paper
• Bacterial periplasmic permeases belong to a family of transport proteins operating from Escherichia coli to human: Traffic ATPases.

  1990cited by this paper
• Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.

  1990cited by this paper
• Structural model of ATP-binding proteing associated with cystic fibrosis, multidrug resistance and bacterial transport

  1990cited by this paper
• Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

  1990cited by this paper
• Cap-independent translation of mRNA conferred by encephalomyocarditis virus 5' sequence improves the performance of the vaccinia virus/bacteriophage T7 hybrid expression system.

  1989cited by this paper
• Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

  1989cited by this paper
• Rapid and efficient site-specific mutagenesis without phenotypic selection.

  1985cited by this paper
• Distantly related sequences in the alpha‐ and beta‐subunits of ATP synthase, myosin, kinases and other ATP‐requiring enzymes and a common nucleotide binding fold.

  1982cited by this paper
• Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

  1981cited by this paper
• Suspension culture of separated follicles consisting of differentiated thyroid epithelial cells.

  1980cited by this paper
• The metabolic basis of inherited disease

  1961cited by this paper

• A cluster of inhibitory residues in the regulatory domain prevents activation of the cystic fibrosis transmembrane conductance regulator.

  2025cites this paper
• CFTR dysfunction leads to defective bacterial eradication on cystic fibrosis airways.

  2024cites this paper
• Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis

  2024cites this paper
• CFTR Modulators: From Mechanism to Targeted Therapeutics.

  2022cites this paper
• Rate of Lung Function Decline in People with Cystic Fibrosis Having a Residual Function Gene Mutation

  2022cites this paper
• Correlating genotype with phenotype using CFTR‐mediated whole‐cell Cl− currents in human nasal epithelial cells

  2021cites this paper
• Cystic fibrosis

  2021cites this paper
• Cystic Fibrosis

  2021cites this paper
• Mucoviscidose de l’adulte

  2021cites this paper
• Molecular Physiology and Pharmacology of the Cystic Fibrosis Transmembrane Conductance Regulator

  2020cites this paper
• Regulation of CFTR Biogenesis by the Proteostatic Network and Pharmacological Modulators

  2020cites this paper
• Carbon monoxide-releasing molecules inhibit the cystic fibrosis transmembrane conductance regulator Cl- channel.

  2020cites this paper
• Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR

  2020cites this paper
• Lumacaftor/ivacaftor in people with cystic fibrosis with an A455E-CFTR mutation.

  2020cites this paper
• Ivacaftor in cystic fibrosis with residual function: Lung function results from an N-of-1 study.

  2019cites this paper
• Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

  2018cites this paper
• Development of Site-Specific CFTR Gene Integration Tools for Testing Gene Editing in Pig Cells

  2017cites this paper
• From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

  2016cites this paper
• Impact of the F508del mutation on ovine CFTR, a Cl− channel with enhanced conductance and ATP‐dependent gating

  2015cites this paper
• An investigation into persistent transgene expression from plasmid vectors in the lung

  2015cites this paper
• Genotypes and Phenotypes in Cystic Fibrosis and Cystic Fibrosis Transmembrane Regulator–Related Disorders

  2015cites this paper
• Revertant mutants modify, but do not rescue, the gating defect of the cystic fibrosis mutant G551D‐CFTR

  2014cites this paper
• Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models.

  2014cites this paper
• Correcting the Cystic Fibrosis Disease Mutant, A455E CFTR

  2014cites this paper
• CFTR potentiators partially restore channel function to A561E‐CFTR, a cystic fibrosis mutant with a similar mechanism of dysfunction as F508del‐CFTR

  2014cites this paper
• Docosahexaenoic acid-derived anti-inflammatory mediators in sputum of adults with cystic fibrosis: clinical and therapeutic implications

  2013cites this paper
• Commentary

  2013cites this paper
• Chapter 58 – Cystic Fibrosis

  2013cites this paper
• Genetics and Pathophysiology of Cystic Fibrosis

  2012cites this paper
• Therapeutic Potential of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Inhibitors in Polycystic Kidney Disease

  2012cites this paper
• Impact of the cystic fibrosis mutation F508del-CFTR on renal cyst formation and growth.

  2012cites this paper
• Acute Relapsing Pancreatitis

  2012cites this paper
• Assessing the Disease-Liability of Mutations in CFTR.

  2012cites this paper
• Ivacaftor potentiation of multiple CFTR channels with gating mutations.

  2012cites this paper
• Pharmacological therapy for cystic fibrosis: from bench to bedside.

  2011cites this paper
• Application of high-resolution single-channel recording to functional studies of cystic fibrosis mutants.

  2011cites this paper
• Recommendations for the classification of diseases as CFTR-related disorders.

  2011cites this paper
• Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.

  2011cites this paper
• Folding and Rescue of a Cystic Fibrosis Transmembrane Conductance Regulator Trafficking Mutant Identified Using Human-Murine Chimeric Proteins*

  2010cites this paper
• Direct Sensing of Intracellular pH by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Cl− Channel*♦

  2009cites this paper
• A mutation in CFTR modifies the effects of the adenylate kinase inhibitor Ap5A on channel gating.

  2008cites this paper
• Insight in eukaryotic ABC transporter function by mutation analysis

  2006cites this paper
• Perspectives in Diabetes K + Channels : Generating Excitement in Pancreatic

  2006cites this paper
• Chapter 5 - The Physiology and Pharmacology of the CFTR Cl− Channel

  2006cites this paper
• Genotype-Phenotype Correlations in Cystic Fibrosis

  2006cites this paper
• Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.

  2005cites this paper
• Curcumin Stimulates Cystic Fibrosis Transmembrane Conductance Regulator Cl– Channel Activity*

  2005cites this paper
• ADP inhibits function of the ABC transporter cystic fibrosis transmembrane conductance regulator via its adenylate kinase activity.

  2005cites this paper
• Cystic fibrosis transmembrane conductance regulator in human and mouse red blood cell membranes and its interaction with ecto‐apyrase

  2004cites this paper
• CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.

  2004cites this paper
• Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation.

  2004cites this paper
• An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.

  2003cites this paper
• Approach to idiopathic recurrent pancreatitis.

  2003cites this paper
• Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9*

  2003cites this paper
• Effects of C-terminal deletions on cystic fibrosis transmembrane conductance regulator function in cystic fibrosis airway epithelia

  2003cites this paper
• Pharmaceutical biotechnology

  2002cites this paper
• Glycosylation and the cystic fibrosis transmembrane conductance regulator

  2001cites this paper
• Commentary Glycosylation and the cystic fibrosis transmembrane conductance regulator

  2001cites this paper
• Cystic Fibrosis Mutations Lead to Carboxyl-terminal Fragments That Highlight an Early Biogenesis Step of the Cystic Fibrosis Transmembrane Conductance Regulator*

  2000cites this paper
• Reaching the diagnosis of cystic fibrosis--the limits of the spectrum.

  2000cites this paper
• Conformation, independent of charge, in the R domain affects cystic fibrosis transmembrane conductance regulator channel openings.

  2000cites this paper
• Genotype and Phenotype in Cystic Fibrosis

  2000cites this paper
• Clinical Features Associated with a Delayed Diagnosis of Cystic Fibrosis

  2000cites this paper
• Experimental approaches for the structural characterization of membrane-spanning segments in proteins

  2000cites this paper
• Mukoviszidose (Zystische Fibrose, CF)

  2000cites this paper
• Function of the second nucleotide‐binding fold in the CFTR chloride channel

  1999cites this paper
• An unstable transmembrane segment in the cystic fibrosis transmembrane conductance regulator

  1999cites this paper
• Processing of CFTR bearing the P574H mutation differs from wild-type and deltaF508-CFTR.

  1999cites this paper
• Cystic Fibrosis-associated Mutations at Arginine 347 Alter the Pore Architecture of CFTR

  1999cites this paper
• Role of CFTR in airway disease.

  1999cites this paper
• Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene

  1998cites this paper
• Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

  1998cites this paper
• Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.

  1998cites this paper
• Cystic fibrosis problem probed by proteolysis

  1998cites this paper
• Transmembrane domain of cystic fibrosis transmembrane conductance regulator: design, characterization, and secondary structure of synthetic peptides m1-m6.

  1998cites this paper
• What we know and what we do not know about cystic fibrosis transmembrane conductance regulator.

  1998cites this paper
• Genetic heterogeneity in familial hyperinsulinism.

  1998cites this paper
• The diagnosis of cystic fibrosis.

  1997cites this paper
• FLAG epitope positioned in an external loop preserves normal biophysical properties of CFTR

  1997cites this paper
• Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

  1997cites this paper
• Genotype ‐ phenotype correlations: Where are we?

  1997cites this paper
• The biogenesis, traffic, and function of the cystic fibrosis transmembrane conductance regulator.

  1997cites this paper
• Covalent Modification of the Regulatory Domain Irreversibly Stimulates Cystic Fibrosis Transmembrane Conductance Regulator*

  1997cites this paper
• Probing the Structural and Functional Domains of the CFTR Chloride Channel

  1997cites this paper
• Relationship between airway ion transport and a mild pulmonary disease mutation in CFTR.

  1997cites this paper
• In vivo activation of the cystic fibrosis transmembrane conductance regulator mutant deltaF508 in murine nasal epithelium.

  1997cites this paper
• Genetic and immunologic aspects of cystic fibrosis.

  1997cites this paper
• Halide Permeation in Wild-Type and Mutant Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channels

  1997cites this paper
• Cystic Fibrosis: Channel, Catalytic, and Folding Properties of the CFTR Protein

  1997cites this paper
• FLAG epitope positioned in an external loop preserves normal biophysical properties of CFTR.

  1997cites this paper
• Cytoplasmic Loop Three of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Regulation of Chloride Channel Activity*

  1996cites this paper
• Effect of Cystic Fibrosis-associated Mutations in the Fourth Intracellular Loop of Cystic Fibrosis Transmembrane Conductance Regulator*

  1996cites this paper
• Cystic fibrosis.

  1996cites this paper
• Contribution of Proline Residues in the Membrane-spanning Domains of Cystic Fibrosis Transmembrane Conductance Regulator to Chloride Channel Function*

  1996cites this paper
• Turnover of the cystic fibrosis transmembrane conductance regulator (CFTR): Slow degradation of wild‐type and ΔF508 CFTR in surface membrane preparations of immortalized airway epithelial cells

  1996cites this paper
• K+ channels: generating excitement in pancreatic beta-cells.

  1996cites this paper
• CFTR Channels Expressed in CHO Cells Do Not Have Detectable ATP Conductance

  1996cites this paper
• Activation of endogenous deltaF508 cystic fibrosis transmembrane conductance regulator by phosphodiesterase inhibition.

  1996cites this paper
• Understanding how cystic fibrosis mutations cause a loss of Cl- channel function.

  1996cites this paper
• K+ Channels: Generating Excitement in Pancreatic β-Cells

  1996cites this paper