Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

gan Parenti, Giancarlo, Andria, Generoso, Valenzano, Kenneth J
Cyhoeddwyd yn Mol Ther (2015)

Role of Dopamine Transporter in Methamphetamine-Induced Neurotoxicity: Evidence from Mice Lacking the Transporter

gan Fumagalli, Fabio, Gainetdinov, Raul R., Valenzano, Kenneth J., Caron, Marc G.
Cyhoeddwyd yn J Neurosci (1998)

Increased Methamphetamine Neurotoxicity in Heterozygous Vesicular Monoamine Transporter 2 Knock-Out Mice

gan Fumagalli, Fabio, Gainetdinov, Raul R., Wang, Yan-Min, Valenzano, Kenneth J., Miller, Gary W., Caron, Marc G.
Cyhoeddwyd yn J Neurosci (1999)

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

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

The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

gan Khanna, Richie, Flanagan, John J., Feng, Jessie, Soska, Rebecca, Frascella, Michelle, Pellegrino, Lee J., Lun, Yi, Guillen, Darlene, Lockhart, David J., Valenzano, Kenneth J.
Cyhoeddwyd 2012

A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease

gan Wu, Xiaoyang, Katz, Evan, Valle, Maria Cecilia Della, Mascioli, Kirsten, Flanagan, John J, Castelli, Jeffrey P, Schiffmann, Raphael, Boudes, Pol, Lockhart, David J, Valenzano, Kenneth J, Benjamin, Elfrida R
Cyhoeddwyd 2011

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

gan 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
Cyhoeddwyd 2009

Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-β Peptide

gan Keilani, Serene, Lun, Yi, Stevens, Anthony C., Williams, Hadis N., Sjoberg, Eric R., Khanna, Richie, Valenzano, Kenneth J., Checler, Frederic, Buxbaum, Joseph D., Yanagisawa, Katsuhiko, Lockhart, David J., Wustman, Brandon A., Gandy, Sam
Cyhoeddwyd yn J Neurosci (2012)

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

gan 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
Cyhoeddwyd 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...

gan 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.
Cyhoeddwyd 2014

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

gan 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.
Cyhoeddwyd 2013

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

gan 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.
Cyhoeddwyd 2010

Improved efficacy of a next-generation ERT in murine Pompe disease

gan Xu, Su, Lun, Yi, Frascella, Michelle, Garcia, Anadina, Soska, Rebecca, Nair, Anju, Ponery, Abdul S., Schilling, Adriane, Feng, Jessie, Tuske, Steven, Valle, Maria Cecilia Della, Martina, José A., Ralston, Evelyn, Gotschall, Russell, Valenzano, Kenneth J., Puertollano, Rosa, Do, Hung V., Raben, Nina, Khanna, Richie
Cyhoeddwyd yn JCI Insight (2019)

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

gan Warnock, David G., Bichet, Daniel G., Holida, Myrl, Goker-Alpan, Ozlem, Nicholls, Kathy, Thomas, Mark, Eyskens, Francois, Shankar, Suma, Adera, Mathews, Sitaraman, Sheela, Khanna, Richie, Flanagan, John J., Wustman, Brandon A., Barth, Jay, Barlow, Carrolee, Valenzano, Kenneth J., Lockhart, David J., Boudes, Pol, Johnson, Franklin K.
Cyhoeddwyd yn PLoS One (2015)

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

gan Benjamin, Elfrida R., Della Valle, Maria Cecilia, Wu, Xiaoyang, Katz, Evan, Pruthi, Farhana, Bond, Sarah, Bronfin, Benjamin, Williams, Hadis, Yu, Julie, Bichet, Daniel G., Germain, Dominique P., Giugliani, Roberto, Hughes, Derralynn, Schiffmann, Raphael, Wilcox, William R., Desnick, Robert J., Kirk, John, Barth, Jay, Barlow, Carrolee, Valenzano, Kenneth J., Castelli, Jeff, Lockhart, David J.
Cyhoeddwyd yn Genet Med (2017)

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

gan 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
Cyhoeddwyd yn Mol Ther (2015)

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

gan Kishnani, Priya, Tarnopolsky, Mark, Roberts, Mark, Sivakumar, Kumarswamy, Dasouki, Majed, Dimachkie, Mazen M., Finanger, Erika, Goker-Alpan, Ozlem, Guter, Karl A., Mozaffar, Tahseen, Pervaiz, Muhammad Ali, Laforet, Pascal, Levine, Todd, Adera, Matthews, Lazauskas, Richard, Sitaraman, Sheela, Khanna, Richie, Benjamin, Elfrida, Feng, Jessie, Flanagan, John J., Barth, Jay, Barlow, Carrolee, Lockhart, David J., Valenzano, Kenneth J., Boudes, Pol, Johnson, Franklin K., Byrne, Barry
Cyhoeddwyd yn Mol Ther (2017)