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The AMP-activated protein kinase (AMPK) is an evolutionarily conserved sensor of cellular and systemic energy balance. PRKAB1, the gene that encodes the β1 regulatory subunit of AMPK, has been shown to be highly involved in the glycogen metabolism. To date, several mutations affecting function of human PRKAB1 have been identified, but few studies have shown a complete description of variability of...
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