Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1998-9-1
|
| pubmed:databankReference | |
| pubmed:abstractText |
Stargazer mice have spike-wave seizures characteristic of absence epilepsy, with accompanying defects in the cerebellum and inner ear. We describe here a novel gene, Cacng2, whose expression is disrupted in two stargazer alleles. It encodes a 36-kD protein (stargazin) with structural similarity to the gamma subunit of skeletal muscle voltage-gated calcium (Ca2+) channels. Stargazin is brain-specific and, like other neuronal Ca2+-channel subunits, is enriched in synaptic plasma membranes. In vitro, stargazin increases steady-state inactivation of alpha1 class A Ca2+ channels. The anticipated effect in stargazer mutants, inappropriate Ca2+ entry, may contribute to their more pronounced seizure phenotype compared with other mouse absence models with Ca2+-channel defects. The discovery that the stargazer gene encodes a gamma subunit completes the identification of the major subunit types for neuronal Ca2+ channels, namely alpha1, alpha2delta, beta and gamma, providing a new opportunity to understand how these channels function in the mammalian brain and how they may be targeted in the treatment of neuroexcitability disorders.
|
| pubmed:grant | |
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
1061-4036
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
19
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
340-7
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:9697694-Amino Acid Sequence,
pubmed-meshheading:9697694-Animals,
pubmed-meshheading:9697694-Brain Chemistry,
pubmed-meshheading:9697694-Calcium Channels,
pubmed-meshheading:9697694-Cell Line,
pubmed-meshheading:9697694-Cloning, Molecular,
pubmed-meshheading:9697694-Cricetinae,
pubmed-meshheading:9697694-Epilepsy, Absence,
pubmed-meshheading:9697694-Gene Expression Regulation,
pubmed-meshheading:9697694-Genes,
pubmed-meshheading:9697694-Mice,
pubmed-meshheading:9697694-Mice, Neurologic Mutants,
pubmed-meshheading:9697694-Molecular Sequence Data,
pubmed-meshheading:9697694-Neurons,
pubmed-meshheading:9697694-Organ Specificity,
pubmed-meshheading:9697694-Patch-Clamp Techniques,
pubmed-meshheading:9697694-RNA, Messenger,
pubmed-meshheading:9697694-Restriction Mapping,
pubmed-meshheading:9697694-Sequence Analysis, DNA,
pubmed-meshheading:9697694-Sequence Homology, Amino Acid,
pubmed-meshheading:9697694-Synaptic Membranes
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.
|
| pubmed:affiliation |
The Jackson Laboratory, Bar Harbor, Maine 04609, USA. val@jax.org
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|