| A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice (2008) | |||||||||||
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| Stored glycogen is an important source of energy for skeletal muscle. Human genetic disorders primarily affecting skeletal muscle glycogen turnover are well-recognised but rare. We previously reported that a frameshiftpremature stop mutation in PPP1R3A the gene encoding RGL a key regulator of muscle glycogen metabolism was present in 1.36 of participants from a population of white individuals in the UK. However the functional implications of the mutation were not known. The objective of this study was to characterise the molecular and physiological consequences of this genetic variant. | |||||||||||
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