Genetic variation in aryl N-acetyltransferase results in significant differences in the pharmacokinetic and safety profiles of amifampridine (3,4-diaminopyridine) phosphate

por Haroldsen, Peter E, Garovoy, Marvin R, Musson, Donald G, Zhou, Huiyu, Tsuruda, Laurie, Hanson, Boyd, O’Neill, Charles A
Publicado 2015

Pharmacokinetic and Pharmacodynamic Evaluation of Elosulfase Alfa, an Enzyme Replacement Therapy in Patients with Morquio A Syndrome

por Qi, Yulan, Musson, Donald G., Schweighardt, Becky, Tompkins, Troy, Jesaitis, Lynne, Shaywitz, Adam J., Yang, Ke, O’Neill, Charles A.
Publicado 2014

Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease

por Hammon, Kevin, de Hart, Greg, Vuillemenot, Brian R., Kennedy, Derek, Musson, Don, O’Neill, Charles A., Katz, Martin L., Henshaw, Joshua W.
Publicado 2021

Lack of germline transmission in male mice following a single intravenous administration of AAV5-hFVIII-SQ gene therapy

por Fonck, Carlos, Su, Cheng, Arens, Jeremy, Koziol, Elli, Srimani, Jaydeep, Henshaw, Joshua, Van Tuyl, Andrea, Chandra, Sundeep, Vettermann, Christian, O’Neill, Charles A.
Publicado 2022

Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem

por Zeile, William L, McCune, Helen C, Musson, Donald G, O'Donnell, Brian, O'Neill, Charles A, Tsuruda, Laurie S, Zori, Roberto T, Laipis, Philip J
Publicado 2018

Investigating the Effect of Chain Connectivity on the Folding of a Beta-Sheet Protein On and Off the Ribosome

por Marsden, Andrew P., Hollins, Jeffrey J., O’Neill, Charles, Ryzhov, Pavel, Higson, Sally, Mendonça, Carolina A.T.F., Kwan, Tristan O., Kwa, Lee Gyan, Steward, Annette, Clarke, Jane
Publicado 2018

The Impact of Pre-existing Immunity on the Non-clinical Pharmacodynamics of AAV5-Based Gene Therapy

por Long, Brian R., Sandza, Krystal, Holcomb, Jennifer, Crockett, Lucy, Hayes, Gregory M., Arens, Jeremy, Fonck, Carlos, Tsuruda, Laurie S., Schweighardt, Becky, O’Neill, Charles A., Zoog, Stephen, Vettermann, Christian
Publicado 2019

Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease)

por Katz, Martin L, Coates, Joan R, Sibigtroth, Christine M, Taylor, Jacob D, Carpentier, Melissa, Young, Whitney M, Wininger, Fred A, Kennedy, Derek, Vuillemenot, Brian R, O'Neill, Charles A
Publicado 2014

Molecular analysis of AAV5-hFVIII-SQ vector-genome-processing kinetics in transduced mouse and nonhuman primate livers

por Sihn, Choong-Ryoul, Handyside, Britta, Liu, Su, Zhang, Lening, Murphy, Ryan, Yates, Bridget, Xie, Lin, Torres, Richard, Russell, Chris B., O'Neill, Charles A., Pungor, Erno, Bunting, Stuart, Fong, Sylvia
Publicado 2021

Gene Therapy with BMN 270 Results in Therapeutic Levels of FVIII in Mice and Primates and Normalization of Bleeding in Hemophilic Mice

por Bunting, Stuart, Zhang, Lening, Xie, Lin, Bullens, Sherry, Mahimkar, Rajeev, Fong, Sylvia, Sandza, Krystal, Harmon, Danielle, Yates, Bridget, Handyside, Britta, Sihn, Choong-Ryoul, Galicia, Nicole, Tsuruda, Laurie, O’Neill, Charles A., Bagri, Anil, Colosi, Peter, Long, Shinong, Vehar, Gordon, Carter, Barrie
Publicado 2018

Brain Alterations in Aged OVT73 Sheep Model of Huntington’s Disease: An MRI Based Approach

por Taghian, Toloo, Gallagher, Jillian, Batcho, Erin, Pullan, Caitlin, Kuchel, Tim, Denney, Thomas, Perumal, Raj, Moore, Shamika, Muirhead, Robb, Herde, Paul, Johns, Daniel, Christou, Chris, Taylor, Amanda, Passler, Thomas, Pulaparthi, Sanjana, Hall, Erin, Chandra, Sundeep, O’Neill, Charles A., Gray-Edwards, Heather
Publicado 2022

Safety, pharmacokinetics and CNS distribution of tralesinidase alfa administered via intracerebroventricular infusion to juvenile cynomolgus monkeys

por Pinkstaff, Jason, McCullagh, Emma, Grover, Anita, Melton, Andrew C., Cherukuri, Anu, Wait, Jill CM, Nguyen, Annalisa, Butt, Mark T., Trombley, Jami L., Reed, Randall P., Adams, Eric.L., Boyd, Robert B., Chandra, Sundeep, Henshaw, Joshua, O’Neill, Charles A., Zanelli, Eric, Kovalchin, Joseph
Publicado 2023

Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy

por van Deutekom, Judith, Beekman, Chantal, Bijl, Suzanne, Bosgra, Sieto, van den Eijnde, Rani, Franken, Dennis, Groenendaal, Bas, Harquouli, Bouchra, Janson, Anneke, Koevoets, Paul, Mulder, Melissa, Muilwijk, Daan, Peterburgska, Galyna, Querido, Bianca, Testerink, Janwillem, Verheul, Ruurd, de Visser, Peter, Weij, Rudie, Aartsma-Rus, Annemieke, Puoliväli, Jukka, Bragge, Timo, O'Neill, Charles, Datson, Nicole A.
Publicado 2023

Young mice administered adult doses of AAV5-hFVIII-SQ achieve therapeutic factor VIII expression into adulthood

por Zhang, Lening, Yates, Bridget, Murphy, Ryan, Liu, Su, Xie, Lin, Handyside, Britta, Sihn, Choong-Ryoul, Bouwman, Taren, Galicia, Nicole, Tan, Danielle, Fonck, Carlos, Arens, Jeremy, Clark, Annie, Zhang, Weiming, Chandra, Sundeep, Srimani, Jaydeep, Holcomb, Jennifer, Van Tuyl, Andrea, Henshaw, Joshua, Vettermann, Christian, Siso, Silvia, Su, Cheng, Bullens, Sherry, Bunting, Stuart, O’Neill, Charles, Fong, Sylvia
Publicado 2022

Crystal orientation fabric anisotropy causes directional hardening of the Northeast Greenland Ice Stream

por Gerber, Tamara Annina, Lilien, David A., Rathmann, Nicholas Mossor, Franke, Steven, Young, Tun Jan, Valero-Delgado, Fernando, Ershadi, M. Reza, Drews, Reinhard, Zeising, Ole, Humbert, Angelika, Stoll, Nicolas, Weikusat, Ilka, Grinsted, Aslak, Hvidberg, Christine Schøtt, Jansen, Daniela, Miller, Heinrich, Helm, Veit, Steinhage, Daniel, O’Neill, Charles, Paden, John, Gogineni, Siva Prasad, Dahl-Jensen, Dorthe, Eisen, Olaf
Publicado 2023

Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatm...

por Grover, Anita, Crippen-Harmon, Danielle, Nave, Lacey, Vincelette, Jon, Wait, Jill C. M., Melton, Andrew C., Lawrence, Roger, Brown, Jillian R., Webster, Katherine A., Yip, Bryan K., Baridon, Brian, Vitelli, Catherine, Rigney, Sara, Christianson, Terri M., Tiger, Pascale M. N., Lo, Melanie J., Holtzinger, John, Shaywitz, Adam J., Crawford, Brett E., Fitzpatrick, Paul A., LeBowitz, Jonathan H., Bullens, Sherry, Aoyagi-Scharber, Mika, Bunting, Stuart, O’Neill, Charles A., Pinkstaff, Jason, Bagri, Anil
Publicado 2020

Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIB

por Ellinwood, N. Matthew, Valentine, Bethann N., Hess, Andrew S., Jens, Jackie K., Snella, Elizabeth M., Jamil, Maryam, Hostetter, Shannon J., Jeffery, Nicholas D., Smith, Jodi D., Millman, Suzanne T., Parsons, Rebecca L., Butt, Mark T., Chandra, Sundeep, Egeland, Martin T., Assis, Ana B., Nelvagal, Hemanth R., Cooper, Jonathan D., Nestrasil, Igor, Mueller, Bryon A., Labounek, Rene, Paulson, Amy, Prill, Heather, Liu, Xiao Ying, Zhou, Huiyu, Lawrence, Roger, Crawford, Brett E., Grover, Anita, Cherala, Ganesh, Melton, Andrew C., Cherukuri, Anu, Vuillemenot, Brian R., Wait, Jill C.M., O’Neill, Charles A., Pinkstaff, Jason, Kovalchin, Joseph, Zanelli, Eric, McCullagh, Emma
Publicado 2022