Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide.

Glycoconjugate journal - 1 Nov 2000

Hämmerle M M, Aleksandrov A A, Chang X B, Riordan J R

Abstract excerpt

We have examined the influence of a novel missense mutation in the fourth extracytoplasmic loop (EL4) of CFTR detected in a patient with cystic fibrosis. This substitution (T908N) creates a consensus sequence (N X S/T) for addition of an N-linked oligosaccharide chain near the C-terminal end of EL4. Oligosaccharyl transferase generally does not have access to this consensus sequence if it is closer than about...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium-Binding Proteins
Share to Calnexin
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Models, Molecular

Share to Oligosaccharides

Share to Protein Binding

Share to Protein Processing, Post-Translational

Source

Identifiers

PMID: 11443282
DOI: 10.1023/a:1010992827511

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

A novel CFTR disease-associated mutation causes addition of an extra N-linked oligosaccharide.PMID 11443282Read ↗

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

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.Semantic proximity Read ↗

Effect of Cystic Fibrosis-associated Mutations in the Fourth Intracellular Loop of Cystic Fibrosis Transmembrane Conductance RegulatorSemantic proximity Read ↗

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR geneSemantic proximity Read ↗

The G551D CFTR chloride channel spurs the development of personalized medicine.Semantic proximity Read ↗

Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.Semantic proximity Read ↗

The pathogenic consequences of a single mutated CFTR gene.Semantic proximity Read ↗

Alteration of CFTR transmembrane span integration by disease-causing mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.