Article
A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant.
Neurobiology of disease - 1 Sept 2016
Dahimene Shehrazade, Page Karen M, Nieto-Rostro Manuela, Pratt Wendy S, D'Arco Marianna, Dolphin Annette C
Abstract excerpt
Episodic ataxia 2 (EA2) is an autosomal dominant disorder caused by mutations in the gene CACNA1A that encodes the pore-forming CaV2.1 calcium channel subunit. The majority of EA2 mutations reported so far are nonsense or deletion/insertion mutations predicted to form truncated proteins. Heterologous expression of wild-type CaV2.1, together with truncated constructs that mimic EA2 mutants, significantly...
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