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

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作者： Gonzalo P,Solis ^[1] ; Tatyana V,Kozhanova ^[2] ; Alexey,Koval ^[3] ; Svetlana S,Zhilina ^[1] ; Tatyana I,Mescheryakova ^[2] ; Aleksandr A,Abramov ^[3] ; Evgeny V,Ishmuratov ^[2] ; Ekaterina S,Bolshakova ^[2] ; Karina V,Osipova ^[2] ; Sergey O,Ayvazyan ^[2] ; Sébastien,Lebon ^[2] ; Ilya V,Kanivets ^[2] ; Denis V,Pyankov ^[4] ; Sabina,Troccaz ^[5] ; Denis N,Silachev ^[5] ; Nikolay N,Zavadenko ^[1] ; Andrey G,Prityko ^[1] ; Vladimir L,Katanaev ^[6]

作者单位： Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva, Switzerland. ^[1] St. Luka's Clinical Research Center for Children, 119620 Moscow, Russia. ^[2] Department of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics, Pirogov Russian National Research Medical University, 117997 Moscow, Russia. ^[3] Unit of Pediatric Neurology and Neurorehabilitation, Division of Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland. ^[4] Center of Medical Genetics, Genomed Ltd., 115093 Moscow, Russia. ^[5] A.N. Belozersky Research Institute of Physico-Chemical Biology, Moscow State University, 119992 Moscow, Russia. ^[6] V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology, 117997 Moscow, Russia. ^[7] School of Biomedicine, Far Eastern Federal University, 690090 Vladivostok, Russia. ^[8]

关键词 G proteins GNAI1 GNAO1 GTP binding Gln52 Golgi case report dominant mutation molecular etiology pediatric encephalopathy plasma membrane protein–protein interactions

主题词脑(Brain);脑疾病(Brain Diseases);细胞膜(Cell Membrane);儿童, 学龄前(Child, Preschool);脑电描记术(Electroencephalography);GTP结合蛋白质α亚单位, Gi-Go(GTP-Binding Protein alpha Subunits, Gi-Go);谷氨酰胺(Glutamine);高尔基体(Golgi Apparatus);鸟苷三磷酸(Guanosine Triphosphate);人类(Humans);水解作用(Hydrolysis);婴儿(Infant);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);突变蛋白质类(Mutant Proteins);蛋白质结合(Protein Binding);构效关系(Structure-Activity Relationship);亚细胞部分(Subcellular Fractions)

DOI 10.3390/cells10102749

PMID 34685729

发布时间 2024-04-03

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2021年10卷10期

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

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

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