Abstract
We briefly introduce the most common lysosomal storage disorder, Gaucher disease, concisely describe the Food and Drug Administration approved strategies to ameliorate Gaucher disease, and then outline the emerging pharmacologic chaperone strategy that offers the promise to remedy this malady.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Gaucher Disease / drug therapy*
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Gaucher Disease / genetics
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Glucosylceramidase / chemistry
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Glucosylceramidase / genetics
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Glucosylceramidase / therapeutic use
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Humans
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Models, Molecular
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Protein Conformation