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

• Main Authors: Reem Handklo-Jamal (Author), Eshcar Meisel (Author), Daniel Yakubovich (Author), Leonid Vysochek (Author), Roy Beinart (Author), Michael Glikson (Author), Julie R. McMullen (Author), Nathan Dascal (Author), Eyal Nof (Author), Shimrit Oz (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2020-05-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...