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Article

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

Biochemistry - 30 Sept 1997

Seibert F S, Jia Y, Mathews C J, Hanrahan J W, Riordan J R, Loo T W, Clarke D M

Abstract excerpt

Since little is known about the contribution to function of the N-terminal cytoplasmic loops (CL1, residues 139-194; CL2, residues 242-307) of cystic fibrosis transmembrane conductance regulator (CFTR), all nine point mutations identified in CLs 1 and 2 from patients with cystic fibrosis were reconstructed in the expression vector pcDNA3-CFTR and expressed transiently in COS-1 and HEK-293 cells and stably in...

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Source

Identifiers

PMID: 9305991
DOI: 10.1021/bi9712652

Genes

CFTR
PNP

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→

Click a neighbor to travelStep 1 · 12 closest

Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.PMID 9305991Read ↗

Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.Semantic proximity Read ↗

A Conserved Region of the R Domain of Cystic Fibrosis Transmembrane Conductance Regulator Is Important in Processing and FunctionSemantic proximity Read ↗

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Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.Semantic proximity Read ↗

Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.Semantic proximity Read ↗

Cystic fibrosis mutations lead to carboxyl-terminal fragments that highlight an early biogenesis step of the cystic fibrosis transmembrane conductance regulator.Semantic proximity Read ↗

C-terminal Truncations Destabilize the Cystic Fibrosis Transmembrane Conductance Regulator without Impairing Its BiogenesisSemantic proximity Read ↗

Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein.Semantic proximity Read ↗

Defects in processing and trafficking of cystic fibrosis transmembrane conductance regulator.Semantic proximity Read ↗

Severed channels probe regulation of gating of cystic fibrosis transmembrane conductance regulator by its cytoplasmic domains.Semantic proximity Read ↗

Ablation of internalization signals in the carboxyl-terminal tail of the cystic fibrosis transmembrane conductance regulator enhances cell surface expression.Semantic proximity Read ↗

Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.Semantic proximity Read ↗

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