...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Neurogenetics >Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
【24h】

Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.

机译：遗传性周围神经病队列中的动力蛋白中间链，轻中间链和轻链的分析。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The cytoplasmic dynein heavy chain (DYNC1H1) gene has been increasingly associated with neurodegenerative disorders including axonal Charcot-Marie-Tooth disease (CMT2), intellectual disability and malformations of cortical development. In addition, evidence from mouse models (Loa, catabolite repressor-activator (Cra) and Sprawling (Swl)) has shown that mutations in Dync1h1 cause a range of neurodegenerative phenotypes with motor and sensory neuron involvement. In this current study, we examined the possible contribution of other cytoplasmic dynein subunits that bind to DYNC1H1 as a cause of inherited peripheral neuropathy. We focused on screening the cytoplasmic dynein intermediate, light intermediate and light chain genes in a cohort of families with inherited peripheral neuropathies. Nine genes were screened and ten variants were detected, but none was identified as pathogenic, indicating that cytoplasmic dynein intermediate, light intermediate and light chains are not a cause of neuropathy in our cohort.
机译：细胞质动力蛋白重链（DYNC1H1）基因已越来越多地与神经退行性疾病相关，包括轴突性Charcot-Marie-Tooth病（CMT2），智力残疾和皮层发育畸形。此外，小鼠模型（Loa，分解代谢物阻遏物激活物（Cra）和蔓延（Swl））的证据表明，Dync1h1中的突变会导致一系列神经退行性表型，涉及运动和感觉神经元。在当前的研究中，我们检查了其他与DYNC1H1结合的细胞质动力蛋白亚基的可能贡献，这是遗传性周围神经病的原因。我们集中于筛选具有遗传性周围神经病的家族队列中的细胞质动力蛋白中间体，轻中间体和轻链基因。筛选了9个基因并检测到10个变体，但均未鉴定出有致病性，表明细胞质动力蛋白中间体，轻中间体和轻链不是我们队列中神经病的原因。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号