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

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Journal of neuroscience research - 1 Jun 2002

Kleopa Kleopas A, Yum Sabrina W, Scherer Steven S

Abstract excerpt

Both oligodendrocytes and myelinating Schwann cells express the gap junction protein connexin32 (Cx32). Mutations in the gene encoding Cx32 (GJB1) cause the X-linked form of Charcot-Marie-Tooth disease (CMTX). Although most CMTX patients do not have clinical central nervous system (CNS) manifestations, subclinical evidence of CNS dysfunction is common. We investigated the cellular effects of a subgroup of...

Read the complete abstract on PubMed

Topics

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

Share to Cell Communication
Share to Charcot-Marie-Tooth Disease
Share to Cysteine Endopeptidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gap Junction beta-1 Protein

Share to Gap Junctions

Share to Golgi Apparatus

Share to Oligodendroglia

Share to Schwann Cells

Source

Identifiers

PMID: 12111842
DOI: 10.1002/jnr.10255

Genes

GJB1

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.PMID 12111842Read ↗

Altered trafficking of mutant connexin32.Semantic proximity Read ↗

Molecular mechanisms of gap junction mutations in myelinating cells.Semantic proximity Read ↗

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

The effects of a dominant connexin32 mutant in myelinating Schwann cells.Semantic proximity Read ↗

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.Semantic proximity Read ↗

Connexin32 and X-linked Charcot–Marie–Tooth DiseaseSemantic proximity Read ↗

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

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

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

Connexin32-null mice develop demyelinating peripheral neuropathySemantic proximity Read ↗

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.Semantic proximity Read ↗

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