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The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ, Rossi B, Tang K, Wu X, Mascioli K, Donaudy F, Tuzzi MR, Fontana F, Cubellis MV, Porto C, Benjamin E, Lockhart DJ, Valenzano KJ, Andria G, Parenti G, Do HV. Flanagan JJ, et al. Among authors: lockhart dj. Hum Mutat. 2009 Dec;30(12):1683-92. doi: 10.1002/humu.21121. Hum Mutat. 2009. PMID: 19862843
Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice.
Benjamin ER, Khanna R, Schilling A, Flanagan JJ, Pellegrino LJ, Brignol N, Lun Y, Guillen D, Ranes BE, Frascella M, Soska R, Feng J, Dungan L, Young B, Lockhart DJ, Valenzano KJ. Benjamin ER, et al. Among authors: lockhart dj. Mol Ther. 2012 Apr;20(4):717-26. doi: 10.1038/mt.2011.271. Epub 2012 Jan 3. Mol Ther. 2012. PMID: 22215019 Free PMC article.
Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice.
Xu S, Lun Y, Brignol N, Hamler R, Schilling A, Frascella M, Sullivan S, Boyd RE, Chang K, Soska R, Garcia A, Feng J, Yasukawa H, Shardlow C, Churchill A, Ketkar A, Robertson N, Miyamoto M, Mihara K, Benjamin ER, Lockhart DJ, Hirato T, Fowles S, Valenzano KJ, Khanna R. Xu S, et al. Among authors: lockhart dj. Mol Ther. 2015 Jul;23(7):1169-1181. doi: 10.1038/mt.2015.87. Epub 2015 Apr 27. Mol Ther. 2015. PMID: 25915924 Free PMC article.
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK. Warnock DG, et al. Among authors: lockhart dj. PLoS One. 2015 Aug 7;10(8):e0134341. doi: 10.1371/journal.pone.0134341. eCollection 2015. PLoS One. 2015. PMID: 26252393 Free PMC article. Clinical Trial.
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ. Benjamin ER, et al. Among authors: lockhart dj. Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22. Genet Med. 2017. PMID: 27657681 Free PMC article.
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: lockhart dj. 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.
72 results