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Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs

11 Jun 2014

Abstract excerpt

Gaucher disease is caused by an inherited deficiency of glucocerebrosidase that manifests with storage of glycolipids in lysosomes, particularly in macrophages. Available cell lines modeling Gaucher disease do not demonstrate lysosomal storage of glycolipids; therefore, we set out to develop two macrophage models of Gaucher disease that exhibit appropriate substrate accumulation. We used these cellular models...

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PMID: 24920659
DOI: 10.1126/scitranslmed.3008659

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