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Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease

Heterotrimeric G proteins are immediate transducers of G protein-coupled receptors—the biggest receptor family in metazoans—and play innumerate functions in health and disease. A set of de novo point mutations in GNAO1 and GNAI1, the genes encoding the α-subunits (Gαo and Gαi1, respectively) of the...

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Detalles Bibliográficos
Autores principales: Solis, Gonzalo P., Kozhanova, Tatyana V., Koval, Alexey, Zhilina, Svetlana S., Mescheryakova, Tatyana I., Abramov, Aleksandr A., Ishmuratov, Evgeny V., Bolshakova, Ekaterina S., Osipova, Karina V., Ayvazyan, Sergey O., Lebon, Sébastien, Kanivets, Ilya V., Pyankov, Denis V., Troccaz, Sabina, Silachev, Denis N., Zavadenko, Nikolay N., Prityko, Andrey G., Katanaev, Vladimir L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535069/
https://www.ncbi.nlm.nih.gov/pubmed/34685729
http://dx.doi.org/10.3390/cells10102749