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

Abstract:

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 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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1371/journal.pmed.0050027

Authors


Savage, DB More by this author
Ravikumar, B More by this author
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Funding agency for:
Karpe, F
Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Med Journal website
Volume:
5
Issue:
1
Pages:
Article: e27
Publication date:
2008-01-05
DOI:
EISSN:
1549-1676
ISSN:
1549-1277
URN:
uuid:9e1a1b1b-fab6-4b25-988c-505a4546adda
Source identifiers:
24726
Local pid:
pubs:24726

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