A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.

A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.

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BACKGROUND: 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 frameshift/premature stop mutation in PPP1R3A, the gene encoding RGL, a key reg...

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書誌詳細
主要な著者: Savage, D, Zhai, L, Ravikumar, B, Choi, C, Snaar, J, McGuire, A, Wou, SE, Medina-Gomez, G, Kim, S, Bock, C, Segvich, D, Solanky, B, Deelchand, D, Vidal-Puig, A, Wareham, N, Shulman, G, Karpe, F, Taylor, R, Pederson, B, Roach, P, O'Rahilly, S, DePaoli-Roach, A
フォーマット: Journal article
言語:English
出版事項: Public Library of Science 2008

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