β-Galactosidase deficiency: An approach to chaperone therapy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0287-y
Reference24 articles.
1. Durand P, Fabrega S, Henrissat B, Mornon J-P, Lehn P (2000) Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis. Hum Mol Genet 9: 967–977.
2. Fabrega S, Durand P, Codogno P, et al (2000) Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells. Glycobiology 10: 1217–1224.
3. Fan JQ, Ishii S, Asano N, Suzuki Y (1999) Accelerating transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nature Medicine 5: 112–115.
4. Frustaci A, Chimenti C, Ricci R, et al (2001) Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 345: 25–32.
5. Ishii S, Kase R, Okumiya T, Sakuraba H, Suzuki Y (1996) Aggregation of the inactive form of human,α-galactosidase in the endoplasmic reticulum. Biochem Biophys Res Commun 220: 812–815.
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