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.

<h4>Background</h4>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 enco...

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Main Authors: David B Savage, Lanmin Zhai, Balasubramanian Ravikumar, Cheol Soo Choi, Johanna E Snaar, Amanda C McGuire, Sung-Eun Wou, Gemma Medina-Gomez, Sheene Kim, Cheryl B Bock, Dyann M Segvich, Bhavana Solanky, Dinesh Deelchand, Antonio Vidal-Puig, Nicholas J Wareham, Gerald I Shulman, Fredrik Karpe, Roy Taylor, Bartholomew A Pederson, Peter J Roach, Stephen O'Rahilly, Anna A DePaoli-Roach
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-01-01
Series:PLoS Medicine
Online Access:https://journals.plos.org/plosmedicine/article/file?id=10.1371/journal.pmed.0050027&type=printable
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https://journals.plos.org/plosmedicine/article/file?id=10.1371/journal.pmed.0050027&type=printable

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