A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of Ca(V)2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca(2+) Influx

Mutations in the CACNA1A gene, encoding the pore-forming Ca(V)2.1 (P/Q-type) channel α(1A) subunit, result in heterogeneous human neurological disorders, including familial and sporadic hemiplegic migraine along with episodic and progressive forms of ataxia. Hemiplegic Migraine (HM) mutations induce...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Bahamonde, Maria Isabel, Serra, Selma Angèlica, Drechsel, Oliver, Rahman, Rubayte, Marcé-Grau, Anna, Prieto, Marta, Ossowski, Stephan, Macaya, Alfons, Fernández-Fernández, José M.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696675/
https://ncbi.nlm.nih.gov/pubmed/26716990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0146035
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