Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
about
Chloride channels as drug targets.Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy geneMutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypesMutations within the first LSGGQ motif of Ste6p cause defects in a-factor transport and mating in Saccharomyces cerevisiae.A novel SMC protein complex in Schizosaccharomyces pombe contains the Rad18 DNA repair proteinIdentification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytesDefective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndromePharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.Development of CFTR StructureFolding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteinsATP-independent CFTR channel gating and allosteric modulation by phosphorylation.DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis.Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosisCystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide bindingA single amino acid substitution in CFTR converts ATP to an inhibitory ligand.Proteomic identification of calumenin as a G551D-CFTR associated protein.Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channelsGenetic heterogeneity in familial hyperinsulinism.The cystic fibrosis transmembrane conductance regulator gene.Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.Localizing a gate in CFTR.Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotypeCFTR!Rapid endocytosis of the cystic fibrosis transmembrane conductance regulator chloride channel.Sildenafil (Viagra) corrects DeltaF508-CFTR location in nasal epithelial cells from patients with cystic fibrosis.Alteration of CFTR transmembrane span integration by disease-causing mutations.Pharmacological approaches to correcting the ion transport defect in cystic fibrosis.Phosphatase inhibitors activate normal and defective CFTR chloride channelsExtensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifCystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.Processing and function of CFTR-DeltaF508 are species-dependent.Improved fluorescence assays to measure the defects associated with F508del-CFTR allow identification of new active compounds.G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defectsGlycans in the intestinal peptide transporter PEPT1 contribute to function and protect from proteolysis.Dynamic association of proteasomal machinery with the centrosome.Reversible silencing of CFTR chloride channels by glutathionylation.CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state
P2860
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P2860
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
1991年论文
@zh
1991年论文
@zh-cn
name
Maturation and function of cys ...... eotide-binding domains 1 and 2
@ast
Maturation and function of cys ...... eotide-binding domains 1 and 2
@en
type
label
Maturation and function of cys ...... eotide-binding domains 1 and 2
@ast
Maturation and function of cys ...... eotide-binding domains 1 and 2
@en
prefLabel
Maturation and function of cys ...... eotide-binding domains 1 and 2
@ast
Maturation and function of cys ...... eotide-binding domains 1 and 2
@en
P2093
P2860
P356
P1476
Maturation and function of cys ...... eotide-binding domains 1 and 2
@en
P2093
Anderson MP
Gregory RJ
Manavalan P
P2860
P304
P356
10.1128/MCB.11.8.3886
P407
P577
1991-08-01T00:00:00Z