Mutation of Walker-A lysine 464 in cystic fibrosis transmembrane conductance regulator reveals functional interaction between its nucleotide-binding domains

Por Powe, Allan C, Al-Nakkash, Layla, Li, Min, Hwang, Tzyh-Chang
Publicado em 2002

The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms

Por Steet, Richard A., Chung, Stephen, Wustman, Brandon, Powe, Allan, Do, Hung, Kornfeld, Stuart A.
Publicado em 2006

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

Por Valenzano, Kenneth J., Khanna, Richie, Powe, Allan C., Boyd, Robert, Lee, Gary, Flanagan, John J., Benjamin, Elfrida R.
Publicado em 2011

The Pharmacological Chaperone AT2220 Increases the Specific Activity and Lysosomal Delivery of Mutant Acid Alpha-Glucosidase, and Promotes Glycogen Reduction in a Transgenic Mouse...

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

The Pharmacological Chaperone Isofagomine Increases Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase

Por Khanna, Richie, Benjamin, Elfrida R., Pellegrino, Lee, Schilling, Adriane, Rigat, Brigitte A., Soska, Rebecca, Nafar, Hadis, Ranes, Brian E., Feng, Jessie, Lun, Yi, Powe, Allan C., Palling, David J., Wustman, Brandon A., Schiffmann, Raphael, Mahuran, Don J., Lockhart, David J., Valenzano, Kenneth J.
Publicado em 2010