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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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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 |
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