Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1

• Główni autorzy: Reem Handklo-Jamal (Autor), Eshcar Meisel (Autor), Daniel Yakubovich (Autor), Leonid Vysochek (Autor), Roy Beinart (Autor), Michael Glikson (Autor), Julie R. McMullen (Autor), Nathan Dascal (Autor), Eyal Nof (Autor), Shimrit Oz (Autor)
• Format: Książka
• Wydane: Frontiers Media S.A., 2020-05-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Andersen-Tawil syndrome (ATS) type-1 is associated with loss-of-function mutations in KCNJ2 gene. KCNJ2 encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential. Kir-channels' activity requires interaction with the agonist...