Article

A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands

2018-03-01

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease comprises up to 80 monogenic inherited neuropathies of the peripheral nervous system (PNS) that collectively result in demyelination and axon degeneration. The majority of CMT disease is primarily either dysmyelinating or demyelinating in which mutations affect the ability of Schwann cells to either assemble or stabilize peripheral nerve myelin. CMT4F is a recessive demyelinating...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ebf5f782-5f2d-5c06-b997-3b2c012330b2
DOI: 10.12688/wellcomeopenres.13673.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bandsDOI 10.12688/wellcomeopenres.13673.1Read

Direct binding of the flexible C-terminal segment of periaxin to β4 integrin suggests a molecular basis for CMT4FSemantic proximity Read

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.Semantic proximity Read

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Semantic proximity Read

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

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.Semantic proximity Read

Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Semantic proximity Read

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4CSemantic proximity Read

Peripheral neuropathies caused by mutations in the myelin protein zero.Semantic proximity Read

Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4HSemantic proximity Read

Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.Semantic proximity Read

Enhanced axonal Neuregulin-1 type-III signaling ameliorates disease severity in a CMT1B mouse modelSemantic proximity Read

C698R Lrsam1 knock-in mouse model for CMT2PSemantic proximity Read