Gaucher Glucosidase

RL, Wustman BA, Huertas P, Powe AC, Pine CW, Khanna R, Schlossmacher MG Ringe D, Petsko GA. (2007) Stracture of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat Chem Biol 3 101-107. 

Steel R, Chung S, Wustman B, Powe A, Do H, Komfeld SA. (2006) The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in gaucher fibroblasts by several mechanisms. Proc Natl Acad Sci USA 103 13813-13818. 

K. M. Osiecki-Newman, D. Fabbro, T. Dinur, S. Boas, S. Gatt, G. Legler, R. J. Desnick, and G. A. Grabowski, Human acid p-glucosidase Affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose, Enzyme, 35 (1986) 147-153. 

B. Brumshtein, H. M. Greenblatt, T. D. Butters, Y. Shaaltiel, D. Aviezer, I. Sihnan, A. H. Futerman, and J. L. Sussman, Crystal structures of complexes of iV-butyl- and iV-nonyl-deoxynojirimycin bound to acid P-glucosidase. Insights into the mechanism of chemical chaperone action in Gaucher disease,... 

R. L. Lieberman, B. A. Wustman, P. Huertas, A. C. Powe, Jr., C. W. Pine, R. Khanna, M. G. Schlossmacher, D. Ringe, and G. A. Petsko, Structure of acid p-glucosidase with pharmacological chaperone provides insight into Gaucher disease, Nat. Chem. Biol., 3 (2007) 101-107. 

Daniels LB, Glew RH, Diven WF, Lee RE, Radin NS (1981) An improved fluorometric leukocyte beta-glucosidase assay for Gaucher s disease. Clin Chim Acta 115 369-375... 

Sawkar, A. R., Cheng, W. C., Beutler, E., Wong, C. H., Balch, W. E. and Kelly, J. W. (2002). Chemical chaperones increase the cellular activity of N370S beta-glucosidase A therapeutic strategy for Gaucher disease. Proc. Natl. Acad. Sci. USA 99, 15428-15433. 

Daniels LB, Glew RH 3-Glucosidase assays in the diagnosis of Gaucher s disease. Clin Chem 28 569-577,1982. 

Glucosylceramide, globosides Gaucher disease (GD) (three types) P-glucosidase lq21... 

Gaucher disease is caused by a deficiency in lysosomal beta-glucosidase activity. Deoxynojirimycins are known inhibitors of several enzymes, which include beta-glucosidase. Several alkylated deoxynojirimycins were screened for correction of N370S Gaucher mutant lysosomal beta-glucosidase activity in an intact cell assay (10). A-(n-nonyl)deoxynojirimycin... 

Belchetz PE, Braidman IP, Crawly JCW, et al. Treatment of Gaucher s disease with liposome-entrapped glucocerebroside beta-glucosidase. Lancet 1977 2 116-117. 

Gaucher s disease Mental retardation, liver and spleen enlargement, erosion of long bones Glucocerebroside /3-Glucosidase... 

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