| First Author | Sun B | Year | 2009 |
| Journal | Mol Genet Metab | Volume | 97 |
| Issue | 4 | Pages | 267-71 |
| PubMed ID | 19419892 | Mgi Jnum | J:151179 |
| Mgi Id | MGI:4352969 | Doi | 10.1016/j.ymgme.2009.04.003 |
| Citation | Sun B, et al. (2009) Activation of glycolysis and apoptosis in glycogen storage disease type Ia. Mol Genet Metab 97(4):267-71 |
| abstractText | The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, growth retardation, renal failure, hepatic adenomas, and hepatocellular carcinoma. Liver involvement includes the massive accumulation of glycogen and lipids due to accumulated glucose-6-phosphate and glycolytic intermediates. Proteomic analysis revealed elevations in glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and other enzymes involved in glycolysis. GAPDH was markedly increased in murine G6Pase-deficient hepatocytes. The moonlighting role of GAPDH includes increasing apoptosis, which was demonstrated by increased TUNEL assay positivity and caspase 3 activation in the murine GSD-Ia liver. These analyses of hepatic involvement in GSD-Ia mice have implicated the induction of apoptosis in the pathobiology of GSD-Ia. |
