Extracellular cysteine disulfide bond break at Cys122 disrupts PIP(2)-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome

BACKGROUND: Andersen-Tawil Syndrome Type 1 (ATS1) is a rare heritable disease caused by mutations in the strong inwardly rectifying K(+) channel Kir2.1. The extracellular Cys122-to-Cys154 disulfide bond in the Kir2.1 channel structure is crucial for proper folding, but has not been associated with c...

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Detalles Bibliográficos
Autores principales: Cruz, Francisco M., Macías, Álvaro, Moreno-Manuel, Ana I., Gutiérrez, Lilian K., Vera-Pedrosa, María Linarejos, Martínez-Carrascoso, Isabel, Pérez, Patricia Sánchez, Robles, Juan Manuel Ruiz, Bermúdez-Jiménez, Francisco J, Díaz-Agustín, Aitor, de Benito, Fernando Martínez, Santiago, Salvador Arias, Braza-Boils, Aitana, Martín-Martínez, Mercedes, Gutierrez-Rodríguez, Marta, Bernal, Juan A., Zorio, Esther, Jiménez-Jaimez, Juan, Jalife, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10274791/
https://www.ncbi.nlm.nih.gov/pubmed/37333254
http://dx.doi.org/10.1101/2023.06.07.544151

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