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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: wustman 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.
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.
Khanna R, Powe AC Jr, Lun Y, Soska R, Feng J, Dhulipala R, Frascella M, Garcia A, Pellegrino LJ, Xu S, Brignol N, Toth MJ, Do HV, Lockhart DJ, Wustman BA, Valenzano KJ. Khanna R, et al. Among authors: wustman ba. PLoS One. 2014 Jul 18;9(7):e102092. doi: 10.1371/journal.pone.0102092. eCollection 2014. PLoS One. 2014. PMID: 25036864 Free PMC article.
A GCase chaperone improves motor function in a mouse model of synucleinopathy.
Richter F, Fleming SM, Watson M, Lemesre V, Pellegrino L, Ranes B, Zhu C, Mortazavi F, Mulligan CK, Sioshansi PC, Hean S, De La Rosa K, Khanna R, Flanagan J, Lockhart DJ, Wustman BA, Clark SW, Chesselet MF. Richter F, et al. Among authors: wustman ba. Neurotherapeutics. 2014 Oct;11(4):840-56. doi: 10.1007/s13311-014-0294-x. Neurotherapeutics. 2014. PMID: 25037721 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: wustman ba. 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.
Evidence that small molecule enhancement of β-hexosaminidase activity corrects the behavioral phenotype in Dutch APP(E693Q) mice through reduction of ganglioside-bound Aβ.
Knight EM, Williams HN, Stevens AC, Kim SH, Kottwitz JC, Morant AD, Steele JW, Klein WL, Yanagisawa K, Boyd RE, Lockhart DJ, Sjoberg ER, Ehrlich ME, Wustman BA, Gandy S. Knight EM, et al. Among authors: wustman ba. Mol Psychiatry. 2015 Feb;20(1):109-17. doi: 10.1038/mp.2014.135. Epub 2014 Oct 28. Mol Psychiatry. 2015. PMID: 25349165 Free PMC article.
20 results