The pharmacological chaperone 1-deoxynoj
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John J. Flanagan; Barbara Rossi; Katherine Tang; Xiaoyang Wu; Kirsten Mascioli;
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Article
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2009
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John Wiley and Sons
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English
โ 490 KB
Pompe disease is a lysosomal storage disorder (LSD) caused by mutations in the gene that encodes acid a-glucosidase (GAA). Recently, small molecule pharmacological chaperones have been shown to increase protein stability and cellular levels for mutant lysosomal enzymes and have emerged as a new ther