Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels

Summary: Mutations in the GNB1 gene, encoding the Gβ1 subunit of heterotrimeric G proteins, cause GNB1 Encephalopathy. Patients experience seizures, pointing to abnormal activity of ion channels or neurotransmitter receptors. We studied three Gβ1 mutations (K78R, I80N and I80T) using computational a...

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Bibliographic Details
Main Authors: Haritha P. Reddy, Daniel Yakubovich, Tal Keren-Raifman, Galit Tabak, Vladimir A. Tsemakhovich, Maria H. Pedersen, Boris Shalomov, Sophie Colombo, David B. Goldstein, Jonathan A. Javitch, Amal K. Bera, Nathan Dascal
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:iScience
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S258900422100986X