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

Principais autores:	Christiaan C. Veerman, Isabella Mengarelli, Charlotte D. Koopman, Ronald Wilders, Shirley C. van Amersfoorth, Diane Bakker, Rianne Wolswinkel, Mariam Hababa, Teun P. de Boer, Kaomei Guan, James Milnes, Elisabeth M. Lodder, Jeroen Bakkers, Arie O. Verkerk, Connie R. Bezzina
Formato:	Artigo
Idioma:	Inglês
Publicado:	The Company of Biologists 2019-07-01
Series:	Disease Models & Mechanisms
Assuntos:	Electrophysiology Mechanisms Ion channels Membrane transport Transgenic models Treatment I(KACh)
Acceso en liña:	http://dmm.biologists.org/content/12/7/dmm037994
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