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

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.

Journal of neurochemistry - 1 Feb 2000

Martin P E, Mambetisaeva E T, Archer D A, George C H, Evans W H

Abstract excerpt

The assembly of gap junction intercellular communication channels was studied by analysis of the molecular basis of the dysfunction of connexin 32 mutations associated with the X-linked form of Charcot-Marie-Tooth disease in which peripheral nervous transmission is impaired. A cell-free translation system showed that six recombinant connexin 32 mutated proteins-four point mutations at the cytoplasmic amino...

Read the complete abstract on PubMed

Topics

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

Share to Cell-Free System
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to COS Cells

Share to Gap Junction beta-1 Protein

Share to Gap Junctions

Share to Protein Processing, Post-Translational

Share to X Chromosome

Source

Identifiers

PMID: 10646523
DOI: 10.1046/j.1471-4159.2000.740711.x

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 · 12 closest

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.PMID 10646523Read ↗

Targeting motifs and functional parameters governing the assembly of connexins into gap junctions.Semantic proximity Read ↗

Altered trafficking of mutant connexin32.Semantic proximity Read ↗

Gap junction assembly: multiple connexin fluorophores identify complex trafficking pathways.Semantic proximity Read ↗

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.Semantic proximity Read ↗

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.Semantic proximity Read ↗

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).Semantic proximity Read ↗

Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects.Semantic proximity Read ↗

Life cycle of connexins in health and disease.Semantic proximity Read ↗

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.Semantic proximity Read ↗

Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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