Article
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Mar 2017
Fu Ssu-Ju, Jeng Chung-Jiuan, Ma Chia-Hao, Peng Yi-Jheng, Lee Chi-Ming, Fang Ya-Ching, Lee Yi-Ching, Tang Sung-Chun, Hu Meng-Chun, Tang Chih-Yung
Abstract excerpt
Voltage-gated CaV2.1 channels comprise a pore-forming α1A subunit with auxiliary α2δ and β subunits. CaV2.1 channels play an essential role in regulating synaptic signaling. Mutations in the human gene encoding the CaV2.1 subunit are associated with the cerebellar disease episodic ataxia type 2 (EA2). Several EA2-causing mutants exhibit impaired protein stability and exert dominant-negative suppression of CaV2.1...
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