Article
Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.
The Journal of biological chemistry - 1 Jun 2023
Wallace Michael J, Malhotra Nipun, Mariángelo Juan Ignacio Elio, Stevens Tyler L, Young Lindsay J, Antwi-Boasiako Steve, Abdallah Danielle, Takenaka Sarah Sumie, Cavus Omer, Murphy Nathaniel P, Han Mei, Xu Xianyao, Mangoni Matteo E, Hund Thomas J, Roberts Jason D, Györke Sandor, Mohler Peter J, El Refaey Mona
Abstract excerpt
Encoded by ANK2, ankyrin-B (AnkB) is a multifunctional adapter protein critical for the expression and targeting of key cardiac ion channels, transporters, cytoskeletal-associated proteins, and signaling molecules. Mice deficient for AnkB expression are neonatal lethal, and mice heterozygous for AnkB expression display cardiac structural and electrical phenotypes. Human ANK2 loss-of-function variants are...
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