A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice

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 R(GL), a key r...

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Главные авторы: Savage, David B, Zhai, Lanmin, Ravikumar, Balasubramanian, Choi, Cheol Soo, Snaar, Johanna E, McGuire, Amanda C, Wou, Sung-Eun, Medina-Gomez, Gemma, Kim, Sheene, Bock, Cheryl B, Segvich, Dyann M, Vidal-Puig, Antonio, Wareham, Nicholas J, Shulman, Gerald I, Karpe, Fredrik, Taylor, Roy, Pederson, Bartholomew A, Roach, Peter J, O'Rahilly, Stephen, DePaoli-Roach, Anna A
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2008
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2214798/
https://ncbi.nlm.nih.gov/pubmed/18232732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pmed.0050027
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