• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Pigment cell research >Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function
【24h】

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function

机译：Hermansky-Pudlak综合征：蛋白质运输和细胞器功能疾病

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 Hermansky-Pudlak syndrome (HPS) is a collection of related autosomal recessive disorders which are genetically heterogeneous. There are eight human HPS subtypes, characterized by oculocutaneous albinism and platelet storage disease; prolonged bleeding, congenital neutropenia, pulmonary fibrosis, and granulomatous colitis can also occur. HPS is caused primarily by defects in intracellular protein trafficking that result in the dysfunction of intracellular organelles known as lysosome-related organelles. HPS gene products are all ubiquitously expressed and all associate in various multi-protein complexes, yet HPS has cell type-specific disease expression. Impairment of specialized secretory cells such as melanocytes, platelets, lung alveolar type II epithelial cells and cytotoxic T cells are observed in HPS. This review summarizes recent molecular, biochemical and cell biological analyses together with clinical studies that have led to the correlation of molecular pathology with clinical manifestations and led to insights into such diverse disease processes such as albinism, fibrosis, hemorrhage, and congenital neutropenia.
机译：Hermansky-Pudlak综合征（HPS）是遗传上异质的相关常染色体隐性遗传疾病的集合。人类HPS有8种亚型，以眼皮肤白化病和血小板贮积病为特征。也会出现长时间的出血，先天性中性粒细胞减少，肺纤维化和肉芽肿性结肠炎。 HPS主要是由细胞内蛋白质运输中的缺陷引起的，该缺陷导致称为溶酶体相关细胞器的细胞内细胞器功能障碍。 HPS基因产物都无处不在表达，并且都与各种多蛋白复合物相关，但是HPS具有细胞类型特异性疾病表达。在HPS中观察到专门分泌细胞的损伤，例如黑素细胞，血小板，II型肺泡上皮细胞和细胞毒性T细胞。这篇综述总结了最近的分子，生化和细胞生物学分析以及临床研究，这些研究导致了分子病理学与临床表现的相关性，并导致了对诸如白化病，纤维化，出血和先天性中性粒细胞减少症等多种疾病过程的见解。

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