Article
Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.
Communications biology - 13 Mar 2020
Otani Yoshinori, Ohno Nobuhiko, Cui Jingjing, Yamaguchi Yoshihide, Baba Hiroko
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy mainly caused by gene mutation of peripheral myelin proteins including myelin protein zero (P0, MPZ). Large myelin protein zero (L-MPZ) is an isoform of P0 that contains an extended polypeptide synthesized by translational readthrough at the C-terminus in tetrapods, including humans. The physiological role of L-MPZ and consequences of an altered...
Topics
- Animals
- Axons
- Charcot-Marie-Tooth Disease
- Disease Models, Animal
- Endoplasmic Reticulum Stress
- Gene Editing
- Heterozygote
- Homozygote
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic
- Motor Activity
- Mutation
- Myelin P0 Protein
- Myelin Sheath