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Abstract
Glycogen storage disease type 1 (GSD1) is an inherited disorder caused by impaired glucose 6-phosphatase activity. This impairment translates into the inhibition of endogenous glucose production an...
Highlights
Glycogen storage disease type 1 (GSD1) is a rare genetic disease, due to an impairment in glucose 6-phosphatase (G6Pase)[1,2] activity
This study showed that AMPK activity was impaired, while mammalian target of rapamycin (mTOR) was activated, translating in decreased autophagy (Figure 1)
carbohydrate responsive element-binding protein (ChREBP) and mTOR activation and AMPK inhibition likely represent key molecular events that orchestrate metabolic reprogramming in GSD1
Summary
Glycogen storage disease type 1 (GSD1) is a rare genetic disease, due to an impairment in glucose 6-phosphatase (G6Pase)[1,2] activity.
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