Expression and processing of mature human frataxin after gene therapy in mice von 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.

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Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease von 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

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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 von 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

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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders von Valenzano, Kenneth J, Khanna, Richie, Powe, Allan C, Boyd, Robert, Lee, Gary, Flanagan, John J, Benjamin, Elfrida R

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

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

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Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent von Nayak, Sushrusha, Doerfler, Phillip A, Porvasnik, Stacy L, Cloutier, Denise D, Khanna, Richie, Valenzano, Ken J, Herzog, Roland W, Byrne, Barry J

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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... von 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

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

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Poly(A)-binding-protein-mediated regulation of hDcp2 decapping in vitro von Khanna, Richie, Kiledjian, Megerditch

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Glucosylceramide Quantitation in Normal and Glucocerebrosidase-Deficient Mouse Brain and Human Cell Lines von Brignol, Nastry, Chang, Kate, Hamler, Rick, Schilling, Adriane E., Khanna, Richie, Lockhart, David J., Clark, Sean W., Benjamin, Elfrida R.

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Challenges in treating Pompe disease: an industry perspective von Do, Hung V, Khanna, Richie, Gotschall, Russell

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Abstract We117: Preclinical Evidence of Long-term Efficacy and Safety of LX2020, an AAV based Plakophilin-2 Gene Therapy, for the Treatment of Arrhythmogenic Cardiomyopathy von Zhang, Jing, Gutierrez Lara, Erika Joana, Do, Aryanne, Nguyen, Lena, Nair, Anju, Selvan, Nithya, Fenn, Tim, Adler, Eric, Khanna, Richie, Sheikh, Farah

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Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases von Boyd, Robert E, Lee, Gary, Rybczynski, Philip, Benjamin, Elfrida R, Khanna, Richie, Wustman, Brandon A, Valenzano, Kenneth J

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Extrapolation of migalastat tissue concentrations in mice as a predictor of human tissue concentrations von Wu, Shirley, Schmith, Virginia, Khanna, Richie, Johnson, Franklin K.

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Validation of Anti-Adeno Associated Virus Serotype rh10 (AAVrh.10) Total and Neutralizing Antibody Immunogenicity Assays von Butala-Flores, Elizabeth, Nguyen, Thien, Selvan, Nithya, Armstrong, Luke, Miller, Michelle, Kamen, Lynn, Lester, Todd, Wernyj, Roman, Khanna, Richie, McNally, Jim, Hays, Amanda

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Abstract 18583: Preclinical Efficacy and Safety of Intravenously Administered LX2020 Gene Therapy for the Treatment of Arrhythmogenic Cardiomyopathy von 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

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Headpiece Domain of Dematin is Required for the Stability of the Erythrocyte Membrane von Khanna, Richie, Chang, Seon H., Andrabi, Shaida, Azam, Mohammad, Kim, Anthony, Rivera, Alicia, Brugnara, Carlo, Low, Philip S., Liu, Shih-Chun, Chishti, Athar H.

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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... von 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

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AAVrh.10 delivery of novel APOE2-Christchurch variant suppresses amyloid and Tau pathology in Alzheimer’s disease mice von Günaydin, Caner, Sondhi, Dolan, Kaminsky, Stephen M., Lephart, Hailey C., Leopold, Philip L., Hackett, Neil R., Khanna, Richie, Crystal, Ronald G.

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