• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genomics >Identification of a Mutation Causing Mucopolysaccharidosis Type IIIA in New Zealand Huntaway Dogs.
【24h】

Identification of a Mutation Causing Mucopolysaccharidosis Type IIIA in New Zealand Huntaway Dogs.

机译：在新西兰狩猎犬中识别导致IIIA型粘多糖贮积病的突变。

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

Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosomal recessive disease that occurs due to a deficiency of heparan sulfate sulfamidase (SGSH). The deficiency of SGSH results in the lysosomal accumulation and urinary excretion of the glycosaminoglycan heparan sulfate. The clinical severity of MPS IIIA is predominantly characterized by severe central nervous system degeneration. Naturally occurring MPS IIIA has recently been described in New Zealand Huntaway dogs, with similar disease progression and biochemical characteristics observed in severely affected MPS IIIA patients. Here, we identify the disease-causing mutation in the MPS IIIA Huntaway dog as 708-709insC. The frequency of the 708-709insC mutation in a sample group of 203 New Zealand Huntaway dogs was determined to be 3.8%. The identification of the 708-709insC mutation will permit the identification of heterozygous carriers as an initial step toward establishing a breeding colony of MPS IIIA dogs for the study of various therapeutic strategies targeted to the central nervous system.
机译：IIIA型粘多糖贮积病（MPS IIIA）是常染色体隐性疾病，由于硫酸乙酰肝素磺酰胺酶（SGSH）的缺乏而发生。 SGSH的缺乏导致糖胺聚糖硫酸乙酰肝素的溶酶体积累和尿排泄。 MPS IIIA的临床严重程度主要以严重的中枢神经系统变性为特征。最近在新西兰Huntaway狗中描述了天然存在的MPS IIIA，在严重受影响的MPS IIIA患者中观察到相似的疾病进展和生化特征。在这里，我们将MPS IIIA Huntaway狗中的致病突变确定为708-709insC。在203只新西兰Huntaway狗的样本组中，确定708-709insC突变的频率为3.8％。 708-709insC突变的鉴定将允许鉴定杂合子载体，这是朝着建立MPS IIIA狗繁殖菌落的第一步，以研究针对中枢神经系统的各种治疗策略。

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