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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...

詳細記述

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書誌詳細
主要な著者: Urban, Daniel J., Zheng, Wei, Goker-Alpan, Ozlem, Jadhav, Ajit, LaMarca, Mary E., Inglese, James, Sidransky, Ellen, Austin, Christopher P.
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668958/
https://ncbi.nlm.nih.gov/pubmed/19075603
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