Article
Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function.
The Journal of biological chemistry - 14 Apr 2000
Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T
Abstract excerpt
Abnormal CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene is associated with spinocerebellar ataxia type 6, an autosomal dominant cerebellar ataxia with a predominant loss of the Purkinje cell. A reverse transcriptase-polymerase chain reaction analysis of mRNA from mouse Purkinje cells revealed a predominant expression of the alpha1A channel lacking an asparagine-proline (NP) stretch in...
Topics
- Animals
- Base Sequence
- Calcium Channels, P-Type
- Calcium Channels, Q-Type
- Cells, Cultured
- Humans
- Male
- Mice
- Mice, Inbred C57BL
- Molecular Sequence Data
- Mutation
