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 CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

Brain : a journal of neurology - 7 May 2021

Rebelo Adriana P, Cortese Andrea, Abraham Amit, Eshed-Eisenbach Yael, Shner Gal, Vainshtein Anna, Buglo Elena, Camarena Vladimir, Gaidosh Gabriel, Shiekhattar Ramin, Abreu Lisa, Courel Steve, Burns Dennis K, Bai Yunhong, Bacon Chelsea, Feely Shawna M E, Castro Diana, Peles Elior, Reilly Mary M, Shy Michael E, Zuchner Stephan

Abstract excerpt

The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essential for the structural organization of myelinated fibres and is primarily mediated by the binding of CADM3, expressed in axons, to CADM4, expressed by myelinating...

Read the complete abstract on PubMed

Topics

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

Share to Axons
Share to Cell Adhesion Molecules

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Charcot-Marie-Tooth Disease

Share to Immunoglobulins

Share to Neuroglia

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 33889941
DOI: 10.1093/brain/awab019
PMCID: PMC8105037

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

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.PMID 33889941Read ↗

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.Semantic proximity Read ↗

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal ExpressionSemantic proximity Read ↗

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Semantic proximity Read ↗

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1Semantic proximity Read ↗

A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.Semantic proximity Read ↗

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.Semantic proximity Read ↗

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.Semantic proximity Read ↗

Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.Semantic proximity Read ↗

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.Semantic proximity Read ↗

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.Semantic proximity Read ↗

Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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