Article
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Disease models & mechanisms - 1 Jun 2023
Kubota Tomoya, Takahashi Satoe, Yamamoto Risa, Sato Ruka, Miyanooto Aya, Yamamoto Reina, Yamauchi Kosuke, Homma Kazuaki, Takahashi Masanori P
Abstract excerpt
Hypokalemic periodic paralysis (HypoPP) is a rare genetic disease associated with mutations in CACNA1S or SCN4A encoding the voltage-gated Ca2+ channel Cav1.1 or the voltage-gated Na+ channel Nav1.4, respectively. Most HypoPP-associated missense changes occur at the arginine residues within the voltage-sensing domain (VSD) of these channels. It is established that such mutations destroy the hydrophobic seal that...
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