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Optimization and Validation of Two Miniaturized Glucocerebrosidase Enzyme Assays for High-Throughput Screening

Glucocerebrosidase (GC) catalyzes the hydrolysis of β-glucocerebroside to glucose and ceramide in lysosomes. Mutations in the glucocerebrosidase gene (GBA) result in Gaucher disease, an autosomal recessive lysosomal storage disorder. Many of the mutations encountered in patients with Gaucher disease...

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Main Authors: Urban, Daniel J., Zheng, Wei, Goker-Alpan, Ozlem, Jadhav, Ajit, LaMarca, Mary E., Inglese, James, Sidransky, Ellen, Austin, Christopher P.
Formato: Artigo
Idioma:Inglês
Publicado: 2008
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668958/
https://ncbi.nlm.nih.gov/pubmed/19075603
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