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The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.
Khanna R, Benjamin ER, Pellegrino L, Schilling A, Rigat BA, Soska R, Nafar H, Ranes BE, Feng J, Lun Y, Powe AC, Palling DJ, Wustman BA, Schiffmann R, Mahuran DJ, Lockhart DJ, Valenzano KJ. Khanna R, et al. Among authors: rigat ba. FEBS J. 2010 Apr;277(7):1618-38. doi: 10.1111/j.1742-4658.2010.07588.x. Epub 2010 Feb 10. FEBS J. 2010. PMID: 20148966 Free PMC article.
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Tropak MB, Kornhaber GJ, Rigat BA, Maegawa GH, Buttner JD, Blanchard JE, Murphy C, Tuske SJ, Coales SJ, Hamuro Y, Brown ED, Mahuran DJ. Tropak MB, et al. Among authors: rigat ba. Chembiochem. 2008 Nov 3;9(16):2650-62. doi: 10.1002/cbic.200800304. Chembiochem. 2008. PMID: 18972510 Free PMC article.
31 results