Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E.
作者信息
Lilly Evelyn, Strickler Michael, Milstone Leonard M, Bunick Christopher G
机构信息
Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Yale Center for Research Computing, Yale University, New Haven, CT, 06520, USA; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, 06520, USA.
出版信息
J Dermatol Sci. 2019 Sep;95(3):119-122. doi: 10.1016/j.jdermsci.2019.07.002. Epub 2019 Jul 10.
Abstract
摘要
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Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E.致死性角膜炎-鱼鳞病-耳聋综合征突变A88V和G45E导致的连接蛋白26蛋白质结构改变。
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The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.Cx26-G45E 突变在致死性角膜-鱼鳞癣-耳聋综合征的小鼠模型中显示增强的半通道活性。
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The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.导致角膜炎-鱼鳞病-耳聋综合征的人类 Cx26-D50A 和 Cx26-A88V 突变显示增强的半通道活性。
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Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2.连接蛋白26半通道发生导致人类患KID综合征的突变后，对二氧化碳不敏感。
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More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.不仅是角膜炎、鱼鳞病和耳聋：致命 GJB2 突变的多系统影响。
J Am Acad Dermatol. 2019 Mar;80(3):617-625. doi: 10.1016/j.jaad.2018.09.042. Epub 2018 Oct 2.
2
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2.连接蛋白26半通道发生导致人类患KID综合征的突变后，对二氧化碳不敏感。
Elife. 2014 Nov 25;3:e04249. doi: 10.7554/eLife.04249.
3
CO₂directly modulates connexin 26 by formation of carbamate bridges between subunits.二氧化碳通过在亚基之间形成氨基甲酸酯桥直接调节连接蛋白26。
Elife. 2013 Nov 12;2:e01213. doi: 10.7554/eLife.01213.
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Molecular dynamics simulations of the Cx26 hemichannel: insights into voltage-dependent loop-gating.Cx26 半通道的分子动力学模拟：电压依赖性环门控的深入了解。
Biophys J. 2012 Mar 21;102(6):1341-51. doi: 10.1016/j.bpj.2012.02.009. Epub 2012 Mar 20.
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Connexin hemichannel-mediated CO2-dependent release of ATP in the medulla oblongata contributes to central respiratory chemosensitivity.缝隙连接半通道介导的 CO2 依赖性 ATP 释放参与延髓中枢呼吸化学敏感性。
J Physiol. 2010 Oct 15;588(Pt 20):3901-20. doi: 10.1113/jphysiol.2010.192088. Epub 2010 Aug 24.
6
CO2-dependent opening of connexin 26 and related β connexins.CO2 依赖性的连接蛋白 26 和相关β连接蛋白的开放。
J Physiol. 2010 Oct 15;588(Pt 20):3921-31. doi: 10.1113/jphysiol.2010.192096. Epub 2010 Aug 24.
7
Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0.利用统计势能和神经网络快速准确地预测突变后蛋白质稳定性的变化：PoPMuSiC-2.0。
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Structure of the connexin 26 gap junction channel at 3.5 A resolution.分辨率为3.5埃的连接蛋白26间隙连接通道结构。
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