| 货号 | 17179-1mg |
| 描述 | Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the α-galactosidase gene that commonly lead to enzyme instability, misfolding, and degradation.1,2 1-Deoxygalactonojirimycin is a competititve inhibitor of α-galactosidase (IC50 = 40 nM).3 At subinhibitory concentrations, 1-Deoxygalactonojirimycin binds to α-galactosidase and chaperones unstable enzyme variants through the endoplasmic reticulum, allowing its movement into lysosomes.4,1 Pharmacological chaperones, including 1-Deoxygalactonojirimycin, are used to promote lysosomal delivery of unstable proteins in lysosomal storage disorders, like Fabry disease.1 |
| 别名 | DGJ;Migalastat; |
| 供应商 | Cayman |
| 应用文献 | |
| 1.Siekierska, A.,De Baets, G.,Ruemers, J., et al. α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. The Journal of Biological Chemisty 287(34), 28386-28397 (2012). 2.Lukas, J.,Giese, A.K.,Markoff, A., et al. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS One 9(8), 1-10 (2013). 3.Asano, N.,Ishii, S.,Kizu, H., et al. In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. European Journal of Biochemistry 267(13), 4179-4186 (2000). 4.Ishii, S.,Chang, H.H.,Yoshioka, H., et al. Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease. Journal of Pharmacology and Experimental Therapeutics 328(3), 723-731 (2009). | |
| 运输条件 | Room temperature in continental US; may vary elsewhere |
| 存放说明 | -20 |
| 纯度 | ≥98% |
| 计算分子量 | 199.6 |
| 分子式 | C6H13NO4 • HCl |
| CAS号 | 75172-81-5 |
| 稳定性 | ≥ 2 years |
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