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Invention E-144-2012/0

Glucocerebrosidase Activators for the Treatment of Gaucher Disease, Parkinson's Disease, and Other Proteinopathies

Lead Inventor: Juan Marugan (NCATS)
Inventors: Ehud Goldin (NHGRI), Samarjit Patnaik (NCATS), Ellen Sidransky (NHGRI), Noel Southall (NCATS), Wendy Westbroek (NHGRI), Wei Zheng (NCATS)
Ref. No.: E-144-2012/0

Abstract: Gaucher disease is a rare lysosomal storage disease that is characterized by a loss of function of the glucocerebrosidase (GCase) enzyme, which results in a decreased ability to degrade its lipid substrate, glucocerebroside. The intracellular build up of this lipid causes a broad range of clinical manifestations, ranging from enlarged spleen/liver and anemia to neurodegeneration. In Gaucher disease, the loss of GCase function has been attributed to low levels of the protein in the lysosomal compartment, resulting from improper GCase folding and transport. Also, mutations in the GCase gene have been linked to some forms of Parkinson's disease, and may also be involved in other proteinopathies.


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High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant GlucocerebrosidasePLoS One • Jan. 17, 2012 • Probe Development Branch, NCATS Chemical Genomics Center

A High Throughput Glucocerebrosidase Assay Using the Natural Substrate GlucosylceramideAnalytical and Bioanalytical Chemistry • January 2012 • Probe Development Branch, NCATS Chemical Genomics Center

Evaluation of Quinazoline Analogues as Glucocerebrosidase Inhibitors with Chaperone ActivityJournal of Medicinal Chemistry • Feb. 24, 2011 • Probe Development Branch, NCATS Chemical Genomics Center