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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2214798/
https://www.ncbi.nlm.nih.gov/pubmed/18232732
http://dx.doi.org/10.1371/journal.pmed.0050027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2214798/
https://www.ncbi.nlm.nih.gov/pubmed/18232732
http://dx.doi.org/10.1371/journal.pmed.0050027

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