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Injection of recombinant adeno (show ADORA2A Proteins)-associated virus-1 vector expressing glycogen synthase short hairpin ribonucleic acids into mice with type II glycogen (show GYS1 Proteins) storage disease leads to significant reduction in impaired glycogen (show GYS1 Proteins) accumulation.
This study found a single homozygous intronic mutation of GYG1 harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages.
Depletion of glycogenin-1 and impaired interaction with glycogen synthase underlies a new form of glycogen (show GYS1 Proteins) storage disease.
The glucosylation of glycogenin-2 (show GYG2 Proteins) was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1.
results explain the glycogen (show GYS1 Proteins) depletion in the patient expressing only Thr83Met glycogenin-1 and why heterozygous carriers without clinical symptoms show a small proportion of unglucosylated glycogenin-1
Results show that glycogenin becomes inactivated with glycogen (show GYS1 Proteins) catabolism and that this event coincides with an increase in glycogenin gene expression as exercise and glycogenolysis progress.
during recovery from prolonged exhaustive exercise, glycogenin mRNA and protein content and activity increase in muscle
GN-1 is conserved, possibly as very small, or nascent, granules when glycogen (show GYS1 Proteins) concentration is low. This would provide the ability to rapidly restore glycogen (show GYS1 Proteins) during early recovery.
the essential role of the lost single hydrogen bond for UDP-glucose activation leading to glycogenin-bound glycogen (show GYS1 Proteins) primer synthesis
This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.
, glycogenin glucosyltransferase