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Clinical and functional consequences of GRIA variants in patients with neurological diseases

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收录情况： ◇ SCIE

作者：
XiangWei Wenshu[1,2] * ; Perszyk Riley E[2] ; Liu Nana[1,2] ; Xu Yuchen[2,3] ; Bhattacharya Subhrajit[2,4] ; Shaulsky Gil H[2,5] ; Smith-Hicks Constance[6,7] ; Fatemi Ali[6,7] ; Fry Andrew E[8,9] ; Chandler Kate[10] ; Wang Tao[11] ; Vogt Julie[12] ; Cohen Julie S[6,7] ; Paciorkowski Alex R[13] ; Poduri Annapurna[14,15] ; Zhang Yuehua[1] ; Wang Shuang[1] ; Wang Yuping[16] ; Zhai Qiongxiang[17] ; Fang Fang[18] ; Leng Jie[19,20] ; Garber Kathryn[21] ; Myers Scott J[2,5] ; Jauss Robin-Tobias[22,23] ; Park Kristen L[24] ; Benke Timothy A[24] ; Lemke Johannes R[22,23] ; Yuan Hongjie[25,26] ; Jiang Yuwu[27] ; Traynelis Stephen F[28,29,30] ;
机构： [1]Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China. [2]Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. [3]Department of Neurology, The First Hospital of Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China. [4]School of Pharmaceutical and Health Sciences, Keck Graduate Institute, Claremont Colleges, Claremont, CA, 91711, USA. [5]Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. [6]Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA. [7]Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. [8]Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK. [9]Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK. [10]Manchester Centre for Genomic Medicine (MCGM), Manchester University NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. [11]Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. [12]West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK. [13]University of Rochester Medical Center, Child Neurology, 601 Elmwood Ave., Rochester, NY, 14642, USA. [14]Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA. [15]Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA. [16]Department of Neurology, Center of Epilepsy, Beijing Key Laboratory of Neuromodulation, Institute of Sleep and Consciousness Disorders, Beijing Institute for Brain Disorders, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China. [17]Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China. [18]Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100069, China. [19]Department Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450066, Henan, China. [20]Department of Endocrinology, Genetics and Metabolism, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Sichuan, 611731, China. [21]Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA. [22]Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. [23]Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany. [24]Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA. [25]Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. [26]Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. [27]Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China. [28]Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. [29]Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. [30]Emory Neurodegenerative Disease Center, Emory University School of Medicine, Atlanta, GA, 30322, USA.
出处：
DOI： 10.1007/s00018-023-04991-6
ISSN：

关键词： Glutamate receptors Channelopathy GRIA GluA AMPA Translational study

摘要：
AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with various neurological disorders. These variants produce changes in agonist EC50, response time course, desensitization, and/or receptor surface expression. We predict that these functional and localization changes will have important consequences for circuit function, and therefore likely contribute to the patients' clinical phenotype. We evaluated the sensitivity of variant receptors to AMPAR-selective modulators including FDA-approved drugs to explore potential targeted therapeutic options.© 2023. The Author(s), under exclusive licence to Springer Nature Switzerland AG.

基金：
This work was supported by the NIH (NS111619 to SFT; MH127404 to HY; HD103538 to JSC), the CureGRIN Foundation (to SFT, KP, and TAB), and by the University Research Committee (Emory URC, #00085889 to HY).
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2022]版：
大类 | 1 区 生物学
小类 | 2 区 细胞生物学 2 区 生化与分子生物学
最新[2023]版：
大类 | 2 区 生物学
小类 | 2 区 生化与分子生物学 2 区 细胞生物学
JCR分区：
出版当年[2021]版：
Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Q1 CELL BIOLOGY
最新[2023]版：
Q1 CELL BIOLOGY Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [1]Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China. [2]Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
通讯作者：
通讯机构： [25]Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. [26]Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. [28]Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. [29]Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. [30]Emory Neurodegenerative Disease Center, Emory University School of Medicine, Atlanta, GA, 30322, USA.
推荐引用方式(GB/T 7714)：
XiangWei Wenshu,Perszyk Riley E,Liu Nana,et al.Clinical and functional consequences of GRIA variants in patients with neurological diseases[J].CELLULAR AND MOLECULAR LIFE SCIENCES.2023,80(11):doi:10.1007/s00018-023-04991-6.
APA：
XiangWei Wenshu,Perszyk Riley E,Liu Nana,Xu Yuchen,Bhattacharya Subhrajit...&Traynelis Stephen F.(2023).Clinical and functional consequences of GRIA variants in patients with neurological diseases.CELLULAR AND MOLECULAR LIFE SCIENCES,80,(11)
MLA：
XiangWei Wenshu,et al."Clinical and functional consequences of GRIA variants in patients with neurological diseases".CELLULAR AND MOLECULAR LIFE SCIENCES 80..11(2023)

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