Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.

doi:10.1093/hmg/ddt022

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Article

Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.

Human molecular genetics - 1 May 2013

Lee Samuel M, Sha Di, Mohammed Anum A, Asress Seneshaw, Glass Jonathan D, Chin Lih-Shen, Li Lian

Abstract excerpt

Charcot-Marie-Tooth disease type 1C (CMT1C) is a dominantly inherited motor and sensory neuropathy. Despite human genetic evidence linking missense mutations in SIMPLE to CMT1C, the in vivo role of CMT1C-linked SIMPLE mutations remains undetermined. To investigate the molecular mechanism underlying CMT1C pathogenesis, we generated transgenic mice expressing either wild-type or CMT1C-linked W116G human SIMPLE....

Topics

Animals
Axons
Charcot-Marie-Tooth Disease
Demyelinating Diseases
Disease Models, Animal
Endosomes
Female
Genetic Vectors
Genotype
Humans
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice, Transgenic

Mutation, Missense

Myelin Sheath

Phenotype

Promoter Regions, Genetic

Receptors, Cytoplasmic and Nuclear

Repressor Proteins

Source

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Identifiers

PMID: 23359569
DOI: 10.1093/hmg/ddt022
PMCID: PMC3613163

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