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A Ca(V)2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

Episodic ataxia 2 (EA2) is an autosomal dominant disorder caused by mutations in the gene CACNA1A that encodes the pore-forming Ca(V)2.1 calcium channel subunit. The majority of EA2 mutations reported so far are nonsense or deletion/insertion mutations predicted to form truncated proteins. Heterolog...

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Detalles Bibliográficos
Autores principales: Dahimene, Shehrazade, Page, Karen M., Nieto-Rostro, Manuela, Pratt, Wendy S., D'Arco, Marianna, Dolphin, Annette C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940211/
https://www.ncbi.nlm.nih.gov/pubmed/27260834
http://dx.doi.org/10.1016/j.nbd.2016.05.020