Article
Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 15 Mar 1999
Tobler A R, Notterpek L, Naef R, Taylor V, Suter U, Shooter E M
Abstract excerpt
Peripheral myelin protein 22 (PMP22) is an integral membrane protein that is essential for the normal formation and maintenance of peripheral myelin. Duplications, deletions, or mutations in the PMP22 gene account for a set of dominantly inherited peripheral neuropathies. The heterozygous Trembler-J (TrJ) genotype in mice is similar genetically to a Charcot-Marie-Tooth disease type 1A pedigree in humans, whereas...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.