Epilepsy protein myoclonin1 interacts with inositol 1,4,5-trisphosphate receptor and reduces calcium ions stored in endoplasmic reticulum

Aim: Mutations in the EFHC1 gene have been identified in patients with various epilepsies, including juvenile myoclonic epilepsy (JME). Mice with Efhc1 deficiency also exhibit epileptic phenotypes. The protein myoclonin1, encoded by EFHC1, is not expressed in neurons but in cells with motile cilia,...

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Hlavní autoři:	Toshimitsu Suzuki, Kripamoy Aguan, Hideaki Mizuno, Ikuyo Inoue, Katsuhiko Mikoshiba, Atsushi Miyawaki, Kazuhiro Yamakawa
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Open Exploration Publishing Inc. 2025-07-01
Edice:	Exploration of Neuroscience
Témata:	efhc1 myoclonin1 juvenile myoclonic epilepsy inositol 1 4 5-trisphosphate receptor protein kinase c substrate 80k-h endoplasmic reticulum-calcium ions store
On-line přístup:	https://www.explorationpub.com/uploads/Article/A100699/100699.pdf
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