Mutations of connexin 26 at position 75 and dominant deafness: Essential role of arginine for the generation of functional gap-junctional channels
Author:
Publisher
Elsevier BV
Subject
Sensory Systems
Reference52 articles.
1. Mechanism of regulation of the gap junction protein connexin 43 by protein kinase C-mediated phosphorylation;Bao;Am. J. Physiol. Cell Physiol.,2004
2. Functional expression in Xenopus oocytes of gap-junctional hemichannels formed by a cysteine-less connexin 43;Bao;J. Biol. Chem.,2004
3. Membrane transport proteins with complete replacement of transmembrane helices with polyalanine sequences remain functional;Bao;J. Biol. Chem.,2005
4. Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells;Beltramello;Biochem. Biophys. Res. Commun.,2003
5. Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness;Beltramello;Nat. Cell Biol.,2005
Cited by 27 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. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains;Biomolecules;2023-10-13
2. Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43;Biochemical Journal;2023-07-17
3. Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications;European Journal of Human Genetics;2021-04-12
4. Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function;American Journal of Physiology-Cell Physiology;2018-11-01
5. Determining the molecular basis of voltage sensitivity in membrane proteins;Journal of General Physiology;2018-08-27
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