Article
Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.
Nature genetics - 1 Jun 1996
Lei K J, Chen H, Pan C J, Ward J M, Mosinger B, Lee E J, Westphal H, Mansfield B C, Chou J Y
Abstract excerpt
Glycogen storage disease type 1a (GSD-1a) is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. A G6Pase knockout mouse which mimics the pathophysiology of human GSD-1a patients was created to understand the pathogenesis of this disorder, to delineate the mechanisms of G6Pase catalysis, and to develop future therapeutic approaches. By examining G6Pase in...
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