| Assay Method Information | |
| | Dose response cell-based high throughput screening assay to identify enhancers of beta-glucosidase activity |
| Description: | Source (MLSCN Center Name): The Scripps Research Institute Molecular Screening Center Center Affiliation: The Scripps Research Institute, TSRI Assay Provider: Jeffery W Kelly, TSRI Network: Molecular Library Screening Center Network (MLSCN) Grant Proposal Number: MH078940-01 Grant Proposal PI: Jeffery W Kelly External Assay ID: Betaglucosidase_ACT_Fluor_384_EC50 Name: Dose response cell-based high throughput screening assay to identify enhancers of beta-glucosidase activity Description: Gaucher disease (GD) is the most common lysosomal storage disorder caused by a loss of lysosomal glucocerebrosidase (GC) activity, leading to substrate accumulation. Glucosylceramide accumulation in monocyte-macrophage cells leads to hepatomegaly, splenomegaly, anemia, thrombocytopenia, bone lesions, and in severe cases, central nervous system (CNS) involvement [1]. Patients without CNS involvement are classified as type 1, while those with CNS involvement are classified as type 2 or type 3. N370S |
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