Expression and processing of mature human frataxin after gene therapy in mice
Rojsajjakul, Teerapat, Selvan, Nithya, De, Bishnu, Rosenberg, Jonathan B, Kaminsky, Stephen M, Sondhi, Dolan, Janki, Peter, Crystal, Ronald G, Mesaros, Clementina, Khanna, Richie, Blair, Ian A
Published in Scientific reports (10.04.2024)
Published in Scientific reports (10.04.2024)
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Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease
Hamler, Rick, Brignol, Nastry, Clark, Sean W, Morrison, Sean, Dungan, Leo B, Chang, Hui H, Khanna, Richie, Frascella, Michelle, Valenzano, Kenneth J, Benjamin, Elfrida R, Boyd, Robert E
Published in Analytical chemistry (Washington) (15.08.2017)
Published in Analytical chemistry (Washington) (15.08.2017)
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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, 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
Published in PloS one (07.08.2015)
Published in PloS one (07.08.2015)
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The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease
Khanna, Richie, Flanagan, John J, Feng, Jessie, Soska, Rebecca, Frascella, Michelle, Pellegrino, Lee J, Lun, Yi, Guillen, Darlene, Lockhart, David J, Valenzano, Kenneth J
Published in PloS one (18.07.2012)
Published in PloS one (18.07.2012)
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Improved efficacy of a next-generation ERT in murine Pompe disease
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
Published in JCI insight (07.03.2019)
Published in JCI insight (07.03.2019)
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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders
Valenzano, Kenneth J, Khanna, Richie, Powe, Allan C, Boyd, Robert, Lee, Gary, Flanagan, John J, Benjamin, Elfrida R
Published in Assay and drug development technologies (01.06.2011)
Published in Assay and drug development technologies (01.06.2011)
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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, Richie, Powe, Jr, 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
Published in PloS one (18.07.2014)
Published in PloS one (18.07.2014)
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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients
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
Published in PloS one (05.03.2013)
Published in PloS one (05.03.2013)
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Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent
Nayak, Sushrusha, Doerfler, Phillip A, Porvasnik, Stacy L, Cloutier, Denise D, Khanna, Richie, Valenzano, Ken J, Herzog, Roland W, Byrne, Barry J
Published in PloS one (04.06.2014)
Published in PloS one (04.06.2014)
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Journal Article
Glucosylceramide Quantitation in Normal and Glucocerebrosidase-Deficient Mouse Brain and Human Cell Lines
Brignol, Nastry, Chang, Kate, Hamler, Rick, Schilling, Adriane E., Khanna, Richie, Lockhart, David J., Clark, Sean W., Benjamin, Elfrida R.
Published in Molecular genetics and metabolism (01.02.2012)
Published in Molecular genetics and metabolism (01.02.2012)
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Headpiece Domain of Dematin is Required for the Stability of the Erythrocyte Membrane
Khanna, Richie, Chang, Seon H., Andrabi, Shaida, Azam, Mohammad, Kim, Anthony, Rivera, Alicia, Brugnara, Carlo, Low, Philip S., Liu, Shih-Chun, Chishti, Athar H.
Published in Proceedings of the National Academy of Sciences - PNAS (14.05.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (14.05.2002)
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Challenges in treating Pompe disease: an industry perspective
Do, Hung V, Khanna, Richie, Gotschall, Russell
Published in Annals of translational medicine (01.07.2019)
Published in Annals of translational medicine (01.07.2019)
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Abstract 18583: Preclinical Efficacy and Safety of Intravenously Administered LX2020 Gene Therapy for the Treatment of Arrhythmogenic Cardiomyopathy
Sheikh, Farah, Zhang, Jing, Gutierrez Lara, Erika, Do, Aryanne, Nguyen, Lena, Bradford, William H, Nair, Anju, Selvan, Nithya, Gutierrez, Sonia, Law, Ken, Fenn, Tim, Khanna, Richie
Published in Circulation (New York, N.Y.) (07.11.2023)
Published in Circulation (New York, N.Y.) (07.11.2023)
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Validation of Anti-Adeno Associated Virus Serotype rh10 (AAVrh.10) Total and Neutralizing Antibody Immunogenicity Assays
Butala-Flores, Elizabeth, Nguyen, Thien, Selvan, Nithya, Armstrong, Luke, Miller, Michelle, Kamen, Lynn, Lester, Todd, Wernyj, Roman, Khanna, Richie, McNally, Jim, Hays, Amanda
Published in Pharmaceutical research (01.10.2023)
Published in Pharmaceutical research (01.10.2023)
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Abstract 13599: LX2020, an Adeno Associated Viral-Based Plakophilin 2 Gene Therapy Stabilizes Cardiac Disease Phenotype in a Severe Mouse Model of Arrhythmogenic Right Ventricular Cardiomyopathy
Sheikh, Farah, Zhang, Jing, Wang, Jie, Bradford, William H, Nair, Anju, Fargnoli, Anthony, Selvan, Nithya, Gutierrez, Sonia, Law, Ken, Fenn, Tim, McCormac, Paul, Barth, Jay A, Khanna, Richie
Published in Circulation (New York, N.Y.) (08.11.2022)
Published in Circulation (New York, N.Y.) (08.11.2022)
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