Scientific article
English

Abnormal junctions and permeability of myelin in PMP22-deficient nerves

Published in

Annals of neurology, vol. 75, no. 2, p. 255-265

Publication date

2014

Abstract

The peripheral myelin protein-22 (PMP22) gene is associated with the most common types of inherited neuropathies, including hereditary neuropathy with liability to pressure palsies (HNPP) caused by PMP22 deficiency. However, the function of PMP22 has yet to be defined. Our previous study has shown that PMP22 deficiency causes an impaired propagation of nerve action potentials in the absence of demyelination. In the present study, we tested an alternative mechanism relating to myelin permeability.

Keywords

  • Action Potentials/drug effects/genetics
  • Age Factors
  • Animals
  • Arthrogryposis/genetics/metabolism
  • Axons/drug effects/metabolism/pathology
  • Disease Models, Animal
  • Gene Expression Regulation/genetics
  • HEK293 Cells
  • Hereditary Sensory and Motor Neuropathy/genetics/metabolism
  • Humans
  • Junctional Adhesion Molecules/metabolism
  • Mice
  • Mice, Transgenic
  • Mutation/genetics
  • Myelin Proteins/deficiency
  • Myelin Sheath/metabolism
  • Neural Conduction/drug effects/genetics
  • Peripheral Nerves/metabolism/pathology
  • Potassium/pharmacology
  • Tight Junction Proteins/metabolism
  • Tight Junctions/genetics/metabolism/pathology

Citation (ISO format)

GUO, Jiasong et al. Abnormal junctions and permeability of myelin in PMP22-deficient nerves. In: Annals of neurology, 2014, vol. 75, n° 2, p. 255–265. doi: 10.1002/ana.24086

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

0364-5134
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Technical informations

Creation

02/07/2014 17:33:00

First validation

02/07/2014 17:33:00

Update

14/03/2023 21:26:10

Status update

14/03/2023 21:26:10

Last indexation

30/10/2024 19:22:29
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