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Glycogen storage disease type XV (GYG1)
Stable Identifier
R-HSA-3814836
Type
Pathway
Species
Homo sapiens
Synonyms
GSD XV
ReviewStatus
5/5
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Glycogen storage diseases (Homo sapiens)
Glycogen storage disease type XV (GYG1) (Homo sapiens)
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Glycogen synthesis is normally initiated by the autoglycosylation of glycogenin (GYG) to form oligo (1,4)-alpha-D-glucosyl GYG. A missense mutation of GYG1 yields a protein that cannot undergo glucosylation, leading to failure of glycogen synthesis, associated with muscle weakness and other abnormalities (Moslemi et al. 2010).
Literature References
PubMed ID
Title
Journal
Year
20357282
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis
Nilsson, J
,
Oldfors, A
,
Lindberg, C
,
Moslemi, AR
,
Andersson, B
,
Tajsharghi, H
N. Engl. J. Med.
2010
Participants
Events
Defective GYG1 is not autoglucosyolated
(Homo sapiens)
Participates
as an event of
Glycogen storage diseases (Homo sapiens)
Disease
Name
Identifier
Synonyms
glycogen storage disease XV
DOID:0050579
glycogen storage disease type XV
Authored
D'Eustachio, P (2013-07-19)
Reviewed
Jassal, B (2015-08-17)
Created
D'Eustachio, P (2013-07-08)
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