葡萄糖脑苷酶的分子生物学与戈谢病的治疗。

Cytokines and molecular therapy Pub Date : 1995-09-01

J A Barranger, J Tomich, S Weiler, S Sakallah, C Sansieri, T Mifflin, A Bahnson, F S Wei, J F Wei, M Vallor

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摘要

遗传性葡萄糖脑苷酶缺乏导致一组鞘脂储存障碍，统称为戈谢病。对葡萄糖脑苷酶的生物化学和细胞生物学的研究使一种有效的酶替代疗法成为可能。葡萄糖脑苷酶分子遗传学的定义提高了诊断能力，并通过基因治疗提出了令人兴奋的治愈可能性。

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Molecular biology of glucocerebrosidase and the treatment of Gaucher disease.

The inherited deficiency of glucocerebrosidase results in a group of sphingolipid storage disorders referred to collectively as Gaucher disease. Study of the biochemistry and cell biology of glucocerebrosidase has made possible an effective enzyme replacement therapy for the disease. Definition of the molecular genetics of glucocerebrosidase has improved diagnostic capabilities and presents the exciting possibility of a cure through gene therapy.

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Cytokines and molecular therapy

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