KCNC3(R420H), a K(+) Channel Mutation Causative in Spinocerebellar Ataxia 13 Displays Aberrant Intracellular Trafficking

Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant disease resulting from mutations in KCNC3 (Kv3.3), a voltage-gated potassium channel. The KCNC3(R420H) mutation was first identified as causative for SCA13 in a four-generation Filipino kindred with over 20 affected individuals. Electrophysi...

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Main Authors: Gallego-Iradi, Carolina, Bickford, Justin S., Khare, Swati, Hall, Alexis, Nick, Jerelyn A., Salmasinia, Donya, Wawrowsky, Kolja, Bannykh, Serguei, Huynh, Duong P., Rincon-Limas, Diego E., Pulst, Stefan M., Nick, Harry S., Fernandez-Funez, Pedro, Waters, Michael F.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4181561/
https://ncbi.nlm.nih.gov/pubmed/25152487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2014.08.020
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