How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?
Author:
Publisher
Elsevier BV
Subject
Developmental Biology,Neurology (clinical),Molecular Biology,General Neuroscience
Reference83 articles.
1. Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot–Marie–Tooth disease;Abel;J. Neuropathol. Exp. Neurol.,1999
2. Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot–Marie–Tooth disease;Abrams;Brain Res,2001
3. Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot–Marie–Tooth disease;Abrams;Proc. Natl. Acad. Sci. U.S.A.,2002
4. Pathogenesis of X-linked Charcot–Marie–Tooth disease: Differential effects of two mutations in connexin 32;Abrams;J. Neurosci.,2003
5. Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct;Ahn;J. Neurosci. Res.,2008
Cited by 99 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. Multiple approaches for the evaluation of connexin-43 expression and function in macrophages;Journal of Immunological Methods;2024-10
2. Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant;BMC Neurology;2024-09-04
3. Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology;Journal of the Peripheral Nervous System;2024-04-10
4. Clinical, neurophysiological and genetic characteristics of Charcot-Marie-Tooth from a research center in northern China;Neurology Asia;2024-03
5. Assessment of blood–brain barrier leakage and brain oxygenation in Connexin‐32 knockout mice with systemic neuroinflammation using pulse electron paramagnetic resonance imaging techniques;Magnetic Resonance in Medicine;2024-01-09
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