Pin1 promotes human CaV2.1 channel polyubiquitination by RNF138: pathophysiological implication for episodic ataxia type 2

Abstract Loss-of-function mutations in the human gene encoding the neuron-specific Ca2+ channel CaV2.1 are linked to the neurological disease episodic ataxia type 2 (EA2), as well as neurodevelopmental disorders such as developmental delay and developmental epileptic encephalopathy. Disease-associat...

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Main Authors: Ssu-Ju Fu, Kai-Min Cheng, Cheng-Tsung Hsiao, Ya-Ching Fang, Chung-Jiuan Jeng, Chih-Yung Tang
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Cell Communication and Signaling
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Online Access:https://doi.org/10.1186/s12964-024-01960-9
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