Brady R O, Murray G J, Barton N W
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892.
J Inherit Metab Dis. 1994;17(4):510-9. doi: 10.1007/BF00711365.
Important therapeutic principles were established in developing effective enzyme replacement therapy for patients with Gaucher disease. The background and sequence of the investigations that led to effective delivery of exogenous glucocerebrosidase to the lipid-storing macrophages in patients with Gaucher disease are described. The principle of targeting the intravenously injected enzyme to the mannose lectin on the surface of these cells by engineering the glycoform of the enzyme is a useful model of an essential requirement for effective enzyme therapy. Similar strategies are expected to be effective for the treatment of a number of hereditary metabolic disorders of humans.
在为戈谢病患者开发有效的酶替代疗法过程中确立了重要的治疗原则。本文描述了相关研究的背景和过程，这些研究最终实现了将外源性葡萄糖脑苷脂酶有效递送至戈谢病患者体内储存脂质的巨噬细胞。通过改造酶的糖型，使静脉注射的酶靶向这些细胞表面的甘露糖凝集素，这一原理是有效酶疗法的一项基本要求的有用模型。预计类似策略对治疗人类多种遗传性代谢疾病有效。
