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Injection of recombinant adeno (显示 ADORA2A ELISA试剂盒)-associated virus-1 vector expressing glycogen synthase short hairpin ribonucleic acids into mice with type II glycogen (显示 GYS1 ELISA试剂盒) storage disease leads to significant reduction in impaired glycogen (显示 GYS1 ELISA试剂盒) 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 (显示 GYS1 ELISA试剂盒) storage disease.
The glucosylation of glycogenin-2 (显示 GYG2 ELISA试剂盒) was enhanced to 2-4 glucose units by the co-presence of enzymatically active glycogenin-1.
results explain the glycogen (显示 GYS1 ELISA试剂盒) 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 (显示 GYS1 ELISA试剂盒) 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 (显示 GYS1 ELISA试剂盒) concentration is low. This would provide the ability to rapidly restore glycogen (显示 GYS1 ELISA试剂盒) during early recovery.
the essential role of the lost single hydrogen bond for UDP-glucose (显示 UGGT1 ELISA试剂盒) activation leading to glycogenin-bound glycogen (显示 GYS1 ELISA试剂盒) 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