Pediatric GNAO1 encephalopathies:from molecular etiology of the disease to drug discovery

作     者：Vladimir L.Katanaev Jana Valnohova Denis N.Silachev Yonika A.Larasati Alexey Koval Vladimir L.Katanaev;Jana Valnohova;Denis N.Silachev;Yonika A.Larasati;Alexey Koval

作者机构：Translational Research Centre in OncohaematologyDepartment of Cell Physiology and MetabolismFaculty of MedicineUniversity of GenevaGenevaSwitzerland Institute of Life Sciences and BiomedicineFar Eastern Federal UniversityVladivostokRussia Department of Functional Biochemistry of BiopolymersA.N.Belozersky Research Institute of Physico-Chemical BiologyMoscow State UniversityMoscowRussia 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2023年第18卷第10期

页      面：2188-2189页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

基　　金：supported by the grant number 21-15-00138 from the Russian Science Foundation to VLK and DNS 

主　　题：encephalo opioid 

摘      要：Gao is the major G protein in neurons,where it transduces signals from numerous G proteincoupled receptors(GPCRs)such as D2 dopamine,μ-opioid,M2 muscarinic,or α2-adrenergic *** 2013,the first mutations in GNAO1,the gene encoding Gao,were described in pediatric patients with encephalopathies(Nakamura et al.,2013),suffering from movementdisorders,epileptic seizures。