Article
Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Jan 1998
D'Urso D, Prior R, Greiner-Petter R, Gabreëls-Festen A A, Müller H W
Abstract excerpt
Nonconservative point mutations of the peripheral myelin protein 22 (PMP22) are associated with Charcot-Marie-Tooth type 1A disease, the most common inherited peripheral neuropathy in humans, and with the Trembler J (TrJ) and Trembler (Tr) alleles in mice. We investigated the intracellular transp...
Topics
- Animals
- Cell Compartmentation
- Charcot-Marie-Tooth Disease
- Endoplasmic Reticulum
- Golgi Apparatus
- HeLa Cells
- Humans
- Mice
- Mutation
- Myelin Proteins
- Schwann Cells
- Transfection