Found: 5
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Mutation of Walker-A lysine 464 in cystic fibrosis transmembrane conductance regulator reveals functional interaction between its nucleotide-binding domains.
- Published in:
- Journal of Physiology, 2002, v. 539, n. 2, p. 333, doi. 10.1113/jphysiol.2001.013162
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- Publication type:
- Article
The Pharmacological Chaperone AT2220 Increases the Specific Activity and Lysosomal Delivery of Mutant Acid Alpha-Glucosidase, and Promotes Glycogen Reduction in a Transgenic Mouse Model of Pompe Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102092
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- Publication type:
- Article
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase.
- Published in:
- FEBS Journal, 2010, v. 277, n. 7, p. 1618, doi. 10.1111/j.1742-4658.2010.07588.x
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- Publication type:
- Article
Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders.
- Published in:
- Assay & Drug Development Technologies, 2011, v. 9, n. 3, p. 213, doi. 10.1089/adt.2011.0370
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- Publication type:
- Article
Structure of acid β-glucosidase with pharmacological chaperone provides insight into Gaucher disease.
- Published in:
- 2007
- By:
- Publication type:
- Letter