...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genomics >Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
【24h】

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

机译：糖原合酶（GYS1）突变引起新型骨骼肌糖原异生。

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

Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage with exertion. It is unlike glycogen storage diseases resulting from known defects in glycogenolysis, glycolysis, and glycogen synthesis that have been described in humans and domestic animals. A genome-wide association identified GYS1, encoding skeletal muscle glycogen synthase (GS), as a candidate gene for PSSM. DNA sequence analysis revealed a mutation resulting in an arginine-to-histidine substitution in a highly conserved region of GS. Functional analysis demonstrated an elevated GS activity in PSSM horses, and haplotype analysis and allele age estimation demonstrated that this mutation is identical by descent among horse breeds. This is the first report of a gain-of-function mutation in GYS1 resulting in a glycogenosis.
机译：多糖贮积性肌病（PSSM）是一种新的马中糖原异生症，其特征是骨骼肌中糖原异常积聚和劳累造成肌肉损伤。它不同于由人和家畜描述的糖原分解，糖酵解和糖原合成的已知缺陷导致的糖原储存疾病。全基因组关联确定编码骨骼肌糖原合酶（GS）的GYS1为PSSM的候选基因。 DNA序列分析揭示了一个突变，该突变导致GS高度保守区域的精氨酸变为组氨酸。功能分析表明，PSSM马的GS活性升高，而单倍型分析和等位基因年龄估计表明，该变异在马品种中因血统而相同。这是导致糖原异生的GYS1功能获得性突变的首次报道。

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