Article
Purkinje cell-specific ablation of Cav2.1 channels is sufficient to cause cerebellar ataxia in mice.
Cerebellum (London, England) - 1 Mar 2012
Todorov Boyan, Kros Lieke, Shyti Reinald, Plak Petra, Haasdijk Elize D, Raike Robert S, Frants Rune R, Hess Ellen J, Hoebeek Freek E, De Zeeuw Chris I, van den Maagdenberg Arn M J M
Abstract excerpt
The Cacna1a gene encodes the α(1A) subunit of voltage-gated Ca(V)2.1 Ca(2+) channels that are involved in neurotransmission at central synapses. Ca(V)2.1-α(1)-knockout (α1KO) mice, which lack Ca(V)2.1 channels in all neurons, have a very severe phenotype of cerebellar ataxia and dystonia, and usually die around postnatal day 20. This early lethality, combined with the wide expression of Ca(V)2.1 channels...
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