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Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing

Adenosine-to-inosine RNA editing in transcripts encoding the voltage-gated potassium channel Kv1.1 converts an isoleucine to valine codon for amino acid 400, speeding channel recovery from inactivation. Numerous Kv1.1 mutations have been associated with the human disorder Episodic Ataxia Type-1 (EA1...

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Detalles Bibliográficos
Autores principales: Ferrick-Kiddie, Elizabeth A., Rosenthal, Joshua J. C., Ayers, Gregory D., Emeson, Ronald B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316942/
https://www.ncbi.nlm.nih.gov/pubmed/28216637
http://dx.doi.org/10.1038/srep41095