Gbe1

Summary

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
Species: mouse
Products:     Gbe1

Top Publications

  1. 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. ..
  2. 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
  3. 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...
  4. 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...
  5. Tunster S, Tycko B, John R. The imprinted Phlda2 gene regulates extraembryonic energy stores. Mol Cell Biol. 2010;30:295-306 pubmed publisher
  6. 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 ..
  7. 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)...