MUTATIONS IN THE GLUCOSE-6-PHOSPHATASE GENE THAT CAUSE GLYCOGEN-STORAGE-DISEASE TYPE-1A

被引：310

作者：

LEI, KJ ^{[1
]}

SHELLY, LL ^{[1
]}

PAN, CJ ^{[1
]}

SIDBURY, JB ^{[1
]}

CHOU, JY ^{[1
]}

机构：

[1] NICHHD, HUMAN GENET BRANCH, BETHESDA, MD 20892 USA

来源：

SCIENCE | 1993年 / 262卷 / 5133期

关键词：

D O I：

10.1126/science.8211187

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Glycogen storage disease (GSD) type 1a is caused by the deficiency Of D-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Despite both a high incidence and morbidity, the molecular mechanisms underlying this deficiency have eluded characterization. In the present study, the molecular and biochemical characterization of the human G6Pase complementary DNA, its gene, and the expressed protein, which is indistinguishable from human microsomal G6Pase, are reported. Several mutations in the G6Pase gene of affected individuals that completely inactivate the enzyme have been identified. These results establish the molecular basis of this disease and open the way for future gene therapy.

引用

页码：580 / 583

页数：4

共 24 条

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