Small Molecule Drug Discovery for Fabry Disease
Author:
Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-90-481-9033-1_9
Reference39 articles.
1. Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC et al (2007) Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J 406(2):285–295
2. Ishii S, Suzuki Y, Fan JQ (2000) Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease. Arch Biochem Biophys 377(2):228–233
3. Ishii S, Kase R, Sakuraba H, Suzuki Y (1993) Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun 197(3):1585–1589
4. Desnick R, Ioannou Y, Eng C (2001) Alpha-galactosidase A deficiency: Fabry disease, 8th edn. McGraw-Hill Professional, New York
5. Brady RO (2006) Enzyme replacement for lysosomal diseases. Annu Rev Med 57:283–296
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