Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice

od Durant, Brandon, Forni, Sabrina, Sweetman, Lawrence, Brignol, Nastry, Meng, Xing-Li, Benjamin, Elfrida R., Schiffmann, Raphael, Shen, Jin-Song
Wydane 2011

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

od Khanna, Richie, Soska, Rebecca, Lun, Yi, Feng, Jessie, Frascella, Michelle, Young, Brandy, Brignol, Nastry, Pellegrino, Lee, Sitaraman, Sheela A, Desnick, Robert J, Benjamin, Elfrida R, Lockhart, David J, Valenzano, Kenneth J
Wydane 2009

Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide

od Schiffmann, Raphael, Forni, Sabrina, Swift, Caren, Brignol, Nastry, Wu, Xiaoyang, Lockhart, David J., Blankenship, Derek, Wang, Xuan, Grayburn, Paul A., Taylor, Matthew R. G., Lowes, Brian D., Fuller, Maria, Benjamin, Elfrida R., Sweetman, Lawrence
Wydane 2014

Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase

od Selvan, Nithya, Mehta, Nickita, Venkateswaran, Suresh, Brignol, Nastry, Graziano, Matthew, Sheikh, M. Osman, McAnany, Yuliya, Hung, Finn, Madrid, Matthew, Krampetz, Renee, Siano, Nicholas, Mehta, Anuj, Brudvig, Jon, Gotschall, Russell, Weimer, Jill M., Do, Hung V.
Wydane w J Biol Chem (2021)

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

od Benjamin, Elfrida R, Khanna, Richie, Schilling, Adriane, Flanagan, John J, Pellegrino, Lee J, Brignol, Nastry, Lun, Yi, Guillen, Darlene, Ranes, Brian E, Frascella, Michelle, Soska, Rebecca, Feng, Jessie, Dungan, Leo, Young, Brandy, Lockhart, David J, Valenzano, Kenneth J
Wydane 2012

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

od 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.
Wydane 2014

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb(3)) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

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

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice

od Xu, Su, Lun, Yi, Brignol, Nastry, Hamler, Rick, Schilling, Adriane, Frascella, Michelle, Sullivan, Sean, Boyd, Robert E, Chang, Kate, Soska, Rebecca, Garcia, Anadina, Feng, Jessie, Yasukawa, Hidehito, Shardlow, Carole, Churchill, Alison, Ketkar, Amol, Robertson, Nicola, Miyamoto, Masahito, Mihara, Kazutoshi, Benjamin, Elfrida R, Lockhart, David J, Hirato, Tohru, Fowles, Susie, Valenzano, Kenneth J, Khanna, Richie
Wydane w Mol Ther (2015)