Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of <i>GNAO1</i> and <i>GNAI1</i> 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 <i>GNAO1</i> and <i>GNAI1</i>, the genes encoding the α-subunit...
Main Authors: | Gonzalo P. Solis, Tatyana V. Kozhanova, Alexey Koval, Svetlana S. Zhilina, Tatyana I. Mescheryakova, Aleksandr A. Abramov, Evgeny V. Ishmuratov, Ekaterina S. Bolshakova, Karina V. Osipova, Sergey O. Ayvazyan, Sébastien Lebon, Ilya V. Kanivets, Denis V. Pyankov, Sabina Troccaz, Denis N. Silachev, Nikolay N. Zavadenko, Andrey G. Prityko, Vladimir L. Katanaev |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-10-01
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Series: | Cells |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4409/10/10/2749 |
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