Fabry disease - current treatment and new drug development.
Fabry disease - current treatment and new drug development.
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DOI：
10.2174/1875397301004010050
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发表时间：
2010-07-23
期刊：
影响因子：
--
通讯作者：
Zheng W
中科院分区：
文献类型：
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作者：
Motabar O;Sidransky E;Goldin E;Zheng W
法布里病是一种罕见的遗传性溶酶体贮积症，由α-半乳糖苷酶A（GLA）的部分或完全缺乏引起，导致过量细胞鞘糖脂的储存。酶替代疗法可用于治疗法布里病，但它是一种昂贵的静脉治疗。目前正在探索替代治疗方法，包括小分子伴侣治疗。高通量筛选（HTS）技术可用于发现其他小分子化合物，包括非抑制性分子伴侣、酶激活剂、还原GLA底物的分子和激活GLA基因启动子的分子。本文综述了目前法布里病的治疗方法，新兴的治疗策略，以及药物发现和开发的过程。
Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, are currently being explored. High throughput screening (HTS) technologies can be utilized to discover other small molecule compounds, including non-inhibitory chaperones, enzyme activators, molecules that reduce GLA substrate, and molecules that activate GLA gene promoters. This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease.