Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy causing ventricular tachycardia following adrenergic stimulation. Pathogenic variants in RYR2-encoded ryanodine receptor 2 (RYR2) cause CPVT1 and cluster into domains I–IV, with the most N-terminal domain involvi...

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Detalles Bibliográficos
Autores principales: Stutzman, Marissa J., Kim, C.S. John, Tester, David J., Hamrick, Samantha K., Dotzler, Steven M., Giudicessi, John R., Miotto, Marco C., GC, Jeevan B., Frank, Joachim, Marks, Andrew R., Ackerman, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481874/
https://www.ncbi.nlm.nih.gov/pubmed/35931078
http://dx.doi.org/10.1016/j.stemcr.2022.07.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481874/
https://www.ncbi.nlm.nih.gov/pubmed/35931078
http://dx.doi.org/10.1016/j.stemcr.2022.07.002

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