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Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Sánchez Pérez P, Ruiz Robles JM, Bermúdez-Jiménez FJ, Díaz-Agustín A, Martínez de Benito F, Arias-Santiago S, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J. Cruz FM, et al. Circ Res. 2024 Apr 12;134(8):e52-e71. doi: 10.1161/CIRCRESAHA.123.323895. Epub 2024 Mar 18. Circ Res. 2024. PMID: 38497220 Free article.
Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome.
Cruz FM, Macías Á, Moreno-Manuel AI, Gutiérrez LK, Vera-Pedrosa ML, Martínez-Carrascoso I, Pérez PS, Robles JMR, Bermúdez-Jiménez FJ, Díaz-Agustín A, de Benito FM, Santiago SA, Braza-Boils A, Martín-Martínez M, Gutierrez-Rodríguez M, Bernal JA, Zorio E, Jiménez-Jaimez J, Jalife J. Cruz FM, et al. bioRxiv [Preprint]. 2023 Jun 8:2023.06.07.544151. doi: 10.1101/2023.06.07.544151. bioRxiv. 2023. PMID: 37333254 Free PMC article. Preprint.