Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy
Author:
Funder
NIH
Publisher
Elsevier BV
Subject
Neurology
Reference35 articles.
1. Independent neuronal origin of seizures and behavioral comorbidities in an animal model of a severe childhood genetic epileptic encephalopathy;Asinof;PLoS Genet.,2015
2. Identification of a developmentally regulated pathway of membrane retrieval in neuronal growth cones;Bonanomi;J. Cell Sci.,2008
3. A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice;Boumil;PLoS Genet.,2010
4. Differential distribution of dynamin isoforms in mammalian cells;Cao;Mol. Biol. Cell,1998
5. The molecular physiology of activity-dependent bulk endocytosis of synaptic vesicles;Clayton;J. Neurochem.,2009
Cited by 24 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. Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy;Molecular Therapy;2024-08
2. Abnormal axonal development and severe epileptic phenotype in Dynamin‐1 (DNM1) encephalopathy;Epileptic Disorders;2023-12-02
3. Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy;Frontiers in Pediatrics;2023-10-09
4. Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor;Frontiers in Cellular Neuroscience;2023-05-18
5. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a;neurogenetics;2023-04-11
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