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

• Main Authors: Christiaan C. Veerman (Author), Isabella Mengarelli (Author), Charlotte D. Koopman (Author), Ronald Wilders (Author), Shirley C. van Amersfoorth (Author), Diane Bakker (Author), Rianne Wolswinkel (Author), Mariam Hababa (Author), Teun P. de Boer (Author), Kaomei Guan (Author), James Milnes (Author), Elisabeth M. Lodder (Author), Jeroen Bakkers (Author), Arie O. Verkerk (Author), Connie R. Bezzina (Author)
• Format: Book
• Published: The Company of Biologists, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...