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April 1, 1990Journal of Biological ChemistryOpen Access

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 mutations.

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Authors

MGMarie GraceUniversity of Colorado BoulderPGPeter N. GravesIcahn School of Medicine at Mount SinaiFSF I SmithBrigham Young University

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Grace et al. (1990) studied this question.

synapsesocial.com/papers/6a836b0a0c529eac175f40behttps://doi.org/10.1016/s0021-9258(19)39223-3
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.1988 · 188 citations
  2. 2Human Acid Beta-Glucosidase: Affinity Purification of theNormal Placental and Gaucher Disease Splenic Enzymes onN - Alkyl-Deoxy nojirimy cin-Sepharose2017 · 24 citations
  3. 3Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.1986 · 89 citations
  4. 4beta-Glucoside hydrolase activity of normal and glucosylceramidotic cultured human skin fibroblasts.1977 · 41 citations