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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: The Company of Biologists 2019-07-01
Series:Disease Models & Mechanisms
Subjects:
Electrophysiology
Mechanisms
Ion channels
Membrane transport
Transgenic models
Treatment
I(KACh)
Online Access:http://dmm.biologists.org/content/12/7/dmm037994

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