The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.

by Richie Khanna, John J Flanagan, Jessie Feng, Rebecca Soska, Michelle Frascella, Lee J Pellegrino, Yi Lun, Darlene Guillen, David J Lockhart, Kenneth J Valenzano
Published 2012-01-01

The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse...

by Richie Khanna, Allan C Powe, Yi Lun, Rebecca Soska, Jessie Feng, Rohini Dhulipala, Michelle Frascella, Anadina Garcia, Lee J Pellegrino, Su Xu, Nastry Brignol, Matthew J Toth, Hung V Do, David J Lockhart, Brandon A Wustman, Kenneth J Valenzano
Published 2014-01-01

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

by Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin
Published 2013-01-01