| First Author | Matsuda J | Year | 1997 |
| Journal | Glycoconj J | Volume | 14 |
| Issue | 6 | Pages | 729-36 |
| PubMed ID | 9337086 | Mgi Jnum | J:43534 |
| Mgi Id | MGI:1098021 | Doi | 10.1023/a:1018573518127 |
| Citation | Matsuda J, et al. (1997) Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis. Glycoconj J 14(6):729-36 |
| abstractText | GM1-gangliosidosis is a progressive neurological disease in humans caused by deficiency of lysosomal acid beta-galactosidase, which hydrolyses the terminal beta-galactosidic residue from ganglioside GM1 and other glycoconjugates. In this study, we generated a mouse model for GM1-gangliosidosis by gene targeting in embryonic stem cells. The mouse homozygous for the disrupted beta-galactosidase gene showed beta-galactosidase deficiency, presented with progressive spastic diplegia, and died of emaciation at 7-10 months of age. Pathologically, PAS-positive intracytoplasmic storage was observed in neuronal cells of various areas in the brain. Biochemical analysis revealed a marked accumulation of ganglioside GM1 and asialo GM1 in brain tissue. This animal model will be useful for pathogenetic analysis and therapeutic trial of human GM1-gangliosidosis. |
