Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability
Author:
Publisher
Elsevier BV
Subject
General Neuroscience
Reference64 articles.
1. Treatment of ischemic brain damage by perturbing NMDA receptor- PSD-95 protein interactions;Aarts;Science,2002
2. Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue;Addis;Sci Rep,2017
3. NMDA receptor GluN2B (GluR epsilon 2/NR2B) subunit is crucial for channel function, postsynaptic macromolecular organization, and actin cytoskeleton at hippocampal CA3 synapses;Akashi;J Neurosci,2009
4. De novo mutations in epileptic encephalopathies;Allen;Nature,2013
5. A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca(2+) permeability;Amin;Nat Commun,2018
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology;Physiological Research;2024-08-31
2. Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat;Cytogenetic and Genome Research;2024-06-22
3. NMDA Receptors in Health and Disease;Physiology;2024-04-02
4. Restoration of nNOS Expression Rescues Autistic-Like Phenotypes Through Normalization of AMPA Receptor-Mediated Neurotransmission;Molecular Neurobiology;2024-02-08
5. DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation;Frontiers in Molecular Neuroscience;2024-01-05
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3