Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome
Francisco Miguel Cruz, Álvaro Macías, Ana I. Moreno-Manuel, Lilian K. Gutiérrez, María Linarejos Vera-Pedrosa, Isabel Martínez-Carrascoso, Patricia Sánchez-Pérez, Juan Manuel Ruiz Robles, Francisco José Bermúdez-Jiménez, Aitor Díaz-Agustín, Fernando Martínez, Salvador Arias‐Santiago, Aitana Braza‐Boïls, Mercedes Martín‐Martinez, Marta Gutiérrez‐Rodríguez, , José Jalife
This paper shows that a mutation breaking the Cys122-to-Cys154 disulfide bond in Kir2.1 channels disrupts PIP2 binding and causes arrhythmias in Andersen-Tawil Syndrome.
bioRxiv · Jun 7, 2023 · PreprintMolecular Biology