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Molecular Genetics and Metabolism|August 15, 1998
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage diseaseH Du, S Sheriff, J Bezerra, et al.
American Journal of Human Genetics|October 1, 1991
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi JewsA Zimran, T Gelbart, B Westwood, et al.
The Journal of Biological Chemistry|July 15, 1993
Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activityA Berg-Fussman, M E Grace, Y Ioannou, et al.
Biochimica Et Biophysica Acta|May 31, 1990
Human acid beta-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active siteP Greenberg, A H Merrill, D C Liotta, et al.
American Journal of Human Genetics|July 1, 1990
Complex alleles of the acid beta-glucosidase gene in Gaucher diseaseT Latham, G A Grabowski, B D Theophilus, et al.
Nucleic Acids Research|October 11, 1989
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase geneB D Theophilus, T Latham, G A Grabowski, et al.
The Journal of Biological Chemistry|April 25, 1990
Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutationsM E Grace, P N Graves, F I Smith, et al.
DNA and Cell Biology|January 1, 1991
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patientsT E Latham, B D Theophilus, G A Grabowski, et al.
Enzyme|January 1, 1985
Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidaseS Gatt, T Dinur, K Osiecki, et al.
DNA (Mary Ann Liebert, Inc.)|October 1, 1988
Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patientP N Graves, G A Grabowski, R Eisner, et al.
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