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Encephalopathy-causing mutations in Gβ(1) (GNB1) alter regulation of neuronal GIRK channels

Mutations in the GNB1 gene, encoding the Gβ(1) subunit of heterotrimeric G proteins, cause GNB1 Encephalopathy. Patients experience seizures, pointing to abnormal activity of ion channels or neurotransmitter receptors. We studied three Gβ(1) mutations (K78R, I80N and I80T) using computational and fu...

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Detalles Bibliográficos
Autores principales: Reddy, Haritha P., Yakubovich, Daniel, Keren-Raifman, Tal, Tabak, Galit, Tsemakhovich, Vladimir A., Pedersen, Maria H., Shalomov, Boris, Colombo, Sophie, Goldstein, David B., Javitch, Jonathan A., Bera, Amal K., Dascal, Nathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426278/
https://www.ncbi.nlm.nih.gov/pubmed/34522861
http://dx.doi.org/10.1016/j.isci.2021.103018