Article
Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel.
The Journal of biological chemistry - 25 Dec 1998
Wakamori M, Yamazaki K, Matsunodaira H, Teramoto T, Tanaka I, Niidome T, Sawada K, Nishizawa Y, Sekiguchi N, Mori E, Mori Y, Imoto K
Abstract excerpt
Recent genetic and molecular biological analyses have revealed many forms of inherited channelopathies. Homozygous ataxic mice, tottering (tg) and leaner (tgla) mice, have mutations in the P/Q-type Ca2+ channel alpha1A subunit gene. Although their clinical phenotypes, histological changes, and lo...
Topics
- Animals
- Calcium Channels
- Calcium Channels, N-Type
- Calcium Channels, P-Type
- Calcium Channels, Q-Type
- Cell Death
- Cerebellum
- Electric Conductivity
- Ion Channel Gating
- Mice
- Mice, Mutant Strains
- Mutation
- Nerve Tissue Proteins
- Neurons
- Phenotype