Scientific article

Abnormal junctions and permeability of myelin in PMP22-deficient nerves

Published inAnnals of neurology, vol. 75, no. 2, p. 255-265
Publication date2014

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.

  • 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)
ISSN of the journal0364-5134

Technical informations

Creation07/02/2014 5:33:00 PM
First validation07/02/2014 5:33:00 PM
Update time03/14/2023 9:26:10 PM
Status update03/14/2023 9:26:10 PM
Last indexation01/16/2024 11:18:02 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack