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

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...

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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
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Cells
Subjects:
pediatric encephalopathy
<i>GNAO1</i>
<i>GNAI1</i>
G proteins
dominant mutation
case report
Online Access:https://www.mdpi.com/2073-4409/10/10/2749

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https://www.mdpi.com/2073-4409/10/10/2749

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