Elucidating the Biological Role of Neuronal Dystonin Isoforms in the Hereditary Sensory Neuropathy Dystonia Musculorum
Dystonin is a cytoskeletal linker protein whose loss-of-function in dystonia musculorum (dt) mice results in a hereditary sensory neuropathy with profound sensory ataxia. The dystonin gene (Dst) is exceptionally large (~400 kb) producing three giant neuronal dystonin isoforms (>600 kDa) through a...
| Main Author: | |
|---|---|
| Language: | en |
| Published: |
2013
|
| Online Access: | http://hdl.handle.net/10393/24266 |