KCNC3R420H, a K+ channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking

KCNC3R420H, 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 KCNC3R420H mutation was first identified as causative for SCA13 in a four-generation Filipino kindred with over 20 affected individuals. Electrophysiol...

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Bibliographic Details
Main Authors: Carolina Gallego-Iradi, Justin S. Bickford, Swati Khare, Alexis Hall, Jerelyn A. Nick, Donya Salmasinia, Kolja Wawrowsky, Serguei Bannykh, Duong P. Huynh, Diego E. Rincon-Limas, Stefan M. Pulst, Harry S. Nick, Pedro Fernandez-Funez, Michael F. Waters
Format: Article
Language:English
Published: Elsevier 2014-11-01
Series:Neurobiology of Disease
Subjects:
Spinocerebellar ataxia
Dominant inheritance
SCA13
KCNC3
Voltage-gated potassium channel
Golgi
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996114002514

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http://www.sciencedirect.com/science/article/pii/S0969996114002514

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