Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I(K,ACh))

Mutations in GNB5, encoding the G-protein β5 subunit (Gβ5), have recently been linked to a multisystem disorder that includes severe bradycardia. Here, we investigated the mechanism underlying bradycardia caused by the recessive p.S81L Gβ5 variant. Using CRISPR/Cas9-based targeting, we generated an...

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Detalles Bibliográficos
Autores principales: Veerman, Christiaan C., Mengarelli, Isabella, Koopman, Charlotte D., Wilders, Ronald, van Amersfoorth, Shirley C., Bakker, Diane, Wolswinkel, Rianne, Hababa, Mariam, de Boer, Teun P., Guan, Kaomei, Milnes, James, Lodder, Elisabeth M., Bakkers, Jeroen, Verkerk, Arie O., Bezzina, Connie R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679373/
https://www.ncbi.nlm.nih.gov/pubmed/31208990
http://dx.doi.org/10.1242/dmm.037994

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