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Abnormal junctions and permeability of myelin in PMP22-deficient nerves

Guo, Jiasong
Wang, Leiming
Zhang, Yang
Wu, Jiawen
Arpag, Sezgi
Hu, Bo
Tian, Xinxia
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Published in Annals of neurology. 2014, vol. 75, no. 2, p. 255-65
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/geneticsAge FactorsAnimalsArthrogryposis/genetics/metabolismAxons/drug effects/metabolism/pathologyDisease Models, AnimalGene Expression Regulation/geneticsHEK293 CellsHereditary Sensory and Motor Neuropathy/genetics/metabolismHumansJunctional Adhesion Molecules/metabolismMiceMice, TransgenicMutation/geneticsMyelin Proteins/deficiencyMyelin Sheath/metabolismNeural Conduction/drug effects/geneticsPeripheral Nerves/metabolism/pathologyPotassium/pharmacologyTight Junction Proteins/metabolismTight Junctions/genetics/metabolism/pathology
PMID: 24339129
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Research group Molécules d'adhésion et processus de migration cellulaire (167)
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GUO, Jiasong et al. Abnormal junctions and permeability of myelin in PMP22-deficient nerves. In: Annals of neurology, 2014, vol. 75, n° 2, p. 255-65. doi: 10.1002/ana.24086 https://archive-ouverte.unige.ch/unige:38568

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Deposited on : 2014-07-09

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