Nav1.7通道p.V1316A突变导致遗传性红斑性肢痛症的分子病理机制数据集

资源简介

Nav1.7通道p.V1316A突变导致遗传性红斑性肢痛症的分子病理机制数据集

【数据集背景】

本数据集源站标题为《The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia》。配套论文《The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia》发表于 PLOS Biology（2016），DOI：10.1371/journal.pbio.1002561。源站首次发布：2016-09-21。

【数据内容】

源站原始描述：The Nav1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-function mutations of this channel have been shown to cause inherited erythromelalgia (IEM) with neuropathic pain. In this study, we report a case of a severe phenotype of IEM caused by p.V1316A mutation in the Nav1.7 channel. Mechanistically, we first demonstrate that the Navβ4 peptide acts as a gating modifier rather than an open channel blocker competing with the inactivating peptide to give rise to…

【数据结构与技术规格】

文件数 4 个，合计 8.93 MB。S1 Fig.TIF：image/tiff，755.88 KB。S2 Fig.TIF：image/tiff，1.36 MB。数据集 DOI：10.1371/journal.pbio.1002561。

【主题与分类】

源站学科分类：Biophysics、Biochemistry、Microbiology、Genetics、Molecular Biology、Neuroscience。主题标签：gain-of-function mutations、inactivating peptide、Molecular Pathogenesis、IEM symptomatology、Inherited Erythromelalgia、uncoupling inactivation、p.V 1316A Mutant Na v 1.7 Channel、gating modifier、neuropathic pain、gating operation。

【适用方向】

源站学科分类标注为 Biophysics、Biochemistry、Microbiology、Genetics、Molecular Biology、Neuroscience。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/The_Biophysical_Basis_Underlying_Gating_Changes_in_the_p_V1316A_Mutant_Na_sub_v_sub_1_7_Channel_and_the_Molecular_Pathogenesis_of_Inherited_Erythromelalgia/3848967

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Huang, Chiung-Wei; Lai, Hsing-Jung; Huang, Po-Yuan; Lee, Ming-Jen; Kuo, Chung-Chin (2016). The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia. PLOS Biology. Dataset

【使用注意】

· 源站最后修改于 2023-05-30，引用时请注意版本时效。