Article
Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice.
The European journal of neuroscience - 1 Nov 2014
Horie Masao, Watanabe Keisuke, Bepari Asim K, Nashimoto Jun-Ichiro, Araki Kimi, Sano Hiromi, Chiken Satomi, Nambu Atsushi, Ono Katsuhiko, Ikenaka Kazuhiro, Kakita Akiyoshi, Yamamura Ken-Ichi, Takebayashi Hirohide
Abstract excerpt
The Dystonin gene (Dst) is responsible for dystonia musculorum (dt), an inherited mouse model of hereditary neuropathy accompanied by progressive motor symptoms such as dystonia and cerebellar ataxia. Dst-a isoforms, which contain actin-binding domains, are predominantly expressed in the nervous system. Although sensory neuron degeneration in the peripheral nervous system during the early postnatal stage is a...
Topics
- Animals
- Brain
- Carrier Proteins
- Cytoskeletal Proteins
- Disease Models, Animal
- Dystonic Disorders
- Dystonin
- Female
- Ganglia, Spinal
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic