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Article

Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.

The Journal of clinical investigation - 1 Jul 1994

Logan J, Hiestand D, Daram P, Huang Z, Muccio D D, Hartman J, Haley B, Cook W J, Sorscher E J

Abstract excerpt

Increasing evidence suggests heterogeneity in the molecular pathogenesis of cystic fibrosis (CF). Mutations such as deletion of phenylalanine at position 508 (delta F508) within the cystic fibrosis transmembrane conductance regulator (CFTR), for example, appear to cause disease by abrogating normal biosynthetic processing, a mechanism which results in retention and degradation of the mutant protein within the...

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Identifiers

PMID: 7518829
DOI: 10.1172/JCI117311
PMCID: PMC296301

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.PMID 7518829Read ↗

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.Semantic proximity Read ↗

The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.Semantic proximity Read ↗

G551D and G1349D, Two CF-associated Mutations in the Signature Sequences of CFTR, Exhibit Distinct Gating DefectsSemantic proximity Read ↗

A single amino acid substitution in CFTR converts ATP to an inhibitory ligand.Semantic proximity Read ↗

Mutations in the nucleotide binding domain 1 signature motif region rescue processing and functional defects of cystic fibrosis transmembrane conductance regulator delta f508.Semantic proximity Read ↗

Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.Semantic proximity Read ↗

Localization and suppression of a kinetic defect in cystic fibrosis transmembrane conductance regulator folding.Semantic proximity Read ↗

Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator.Semantic proximity Read ↗

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Alteration of the Cystic Fibrosis Transmembrane Conductance Regulator Folding PathwaySemantic proximity Read ↗

CFTR: folding, misfolding and correcting the ΔF508 conformational defect.Semantic proximity Read ↗

Benign missense variations in the cystic fibrosis gene.Semantic proximity Read ↗

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