Disease-Associated Mutations in Cytoplasmic Loops 1 and 2 of Cystic Fibrosis Transmembrane Conductance Regulator Impede Processing or Opening of the Channel†
about
The PEST sequence does not contribute to the stability of the cystic fibrosis transmembrane conductance regulatorAllosteric coupling between the intracellular coupling helix 4 and regulatory sites of the first nucleotide-binding domain of CFTRUse of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.Molecular models of human P-glycoprotein in two different catalytic statesInterplay between ER exit code and domain conformation in CFTR misprocessing and rescue.Cystic fibrosis transmembrane conductance regulator. Structure and function of an epithelial chloride channel.Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexinIntragenic suppressing mutations correct the folding and intracellular traffic of misfolded mutants of Yor1p, a eukaryotic drug transporter.Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.Mutational Analysis of Intracellular Loops Identify Cross Talk with Nucleotide Binding Domains of Yeast ABC Transporter Cdr1p.Human heat shock protein 105/110 kDa (Hsp105/110) regulates biogenesis and quality control of misfolded cystic fibrosis transmembrane conductance regulator at multiple levels.Insight in eukaryotic ABC transporter function by mutation analysis.Assessing the Disease-Liability of Mutations in CFTRCorrectors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.Human P-glycoprotein contains a greasy ball-and-socket joint at the second transmission interface.CLC-0 and CFTR: chloride channels evolved from transporters.Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators.R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating.A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator.C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.Expression and function of human MRP1 (ABCC1) is dependent on amino acids in cytoplasmic loop 5 and its interface with nucleotide binding domain 2.NMR evidence for differential phosphorylation-dependent interactions in WT and DeltaF508 CFTR.Mapping of interdomain interfaces required for the functional architecture of Yor1p, a eukaryotic ATP-binding cassette (ABC) transporter.Bithiazole correctors rescue CFTR mutants by two different mechanisms.Mutation of Glu521 or Glu535 in cytoplasmic loop 5 causes differential misfolding in multiple domains of multidrug and organic anion transporter MRP1 (ABCC1)Deletion of phenylalanine 508 causes attenuated phosphorylation-dependent activation of CFTR chloride channels.Characterization of mutations located in exon 18 of the CFTR gene.Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
P2860
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P2860
Disease-Associated Mutations in Cytoplasmic Loops 1 and 2 of Cystic Fibrosis Transmembrane Conductance Regulator Impede Processing or Opening of the Channel†
description
article
@en
im September 1997 veröffentlicher wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 1997
@uk
name
Disease-Associated Mutations i ...... ing or Opening of the Channel†
@en
Disease-Associated Mutations i ...... ing or Opening of the Channel†
@nl
type
label
Disease-Associated Mutations i ...... ing or Opening of the Channel†
@en
Disease-Associated Mutations i ...... ing or Opening of the Channel†
@nl
prefLabel
Disease-Associated Mutations i ...... ing or Opening of the Channel†
@en
Disease-Associated Mutations i ...... ing or Opening of the Channel†
@nl
P2093
P356
P1433
P1476
Disease-Associated Mutations i ...... ing or Opening of the Channel†
@en
P2093
Ceri J. Mathews
David M. Clarke
Fabian S. Seibert
John R. Riordan
John W. Hanrahan
Yanlin Jia
P304
11966-11974
P356
10.1021/BI9712652
P407
P50
P577
1997-09-01T00:00:00Z