Gene Symbol: Gbe1
Description: glucan (1,4-alpha-), branching enzyme 1
Alias: 2310045H19Rik, 2810426P10Rik, D16Ertd536e, 1,4-alpha-glucan-branching enzyme, brancher enzyme, glycogen-branching enzyme
Augustin M, Sedlmeier R, Peters T, Huffstadt U, Kochmann E, Simon D, et al
. Efficient and fast targeted production of murine models based on ENU mutagenesis. Mamm Genome. 2005;16:405-13 pubmed
..We conclude that ENU-based targeted mutagenesis is a powerful tool for the fast and high-throughput production of murine gene-specific models for biomedical research. ..
Liu S, Li Y, Chen Y, Chiang E, Li A, Lee Y, et al
. Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. Hepatology. 2007;46:1413-25 pubmed
Pescador N, Villar D, Cifuentes D, Garcia Rocha M, Ortiz Barahona A, Vazquez S, et al
. Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. PLoS ONE. 2010;5:e9644 pubmed publisher
..the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1), two enzymes involved in the biosynthesis of glycogen...
Orhan Akman H, Emmanuele V, Kurt Y, Kurt B, Sheiko T, DiMauro S, et al
. A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015;24:6801-10 pubmed publisher
..Homologous recombination was used to knock in the most common GBE1 mutation p.Y329S c.986A > C found in APBD patients of Ashkenazi Jewish decent...
Tunster S, Tycko B, John R. The imprinted Phlda2 gene regulates extraembryonic energy stores. Mol Cell Biol. 2010;30:295-306 pubmed publisher
Lee Y, Chang C, Bali D, Chen Y, Yan Y. Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. Hum Mol Genet. 2011;20:455-65 pubmed publisher
..disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic ..
Akman H, Sheiko T, Tay S, Finegold M, DiMauro S, Craigen W. Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Hum Mol Genet. 2011;20:4430-9 pubmed publisher
..storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen branching enzyme (GBE)...