Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase
Puzzo, Francesco, Colella, Pasqualina, Biferi, Maria G, Bali, Deeksha, Paulk, Nicole K, Vidal, Patrice, Collaud, Fanny, Simon-Sola, Marcelo, Charles, Severine, Hardet, Romain, Leborgne, Christian, Meliani, Amine, Cohen-Tannoudji, Mathilde, Astord, Stephanie, Gjata, Bernard, Sellier, Pauline, van Wittenberghe, Laetitia, Vignaud, Alban, Boisgerault, Florence, Barkats, Martine, Laforet, Pascal, Kay, Mark A, Koeberl, Dwight D, Ronzitti, Giuseppe, Mingozzi, Federico
Published in Science translational medicine (29.11.2017)
Published in Science translational medicine (29.11.2017)
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A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia
Zhou, Jin, Waskowicz, Lauren R, Lim, Andrea, Liao, Xiao-Hui, Lian, Brian, Masamune, Hiroko, Refetoff, Samuel, Tran, Brian, Koeberl, Dwight D, Yen, Paul M
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Published in Thyroid (New York, N.Y.) (01.08.2019)
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A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
Stiles, Ashlee R., Zhang, Haoyue, Dai, Jian, McCaw, Patricia, Beasley, James, Rehder, Catherine, Koeberl, Dwight D., McDonald, Marie, Bali, Deeksha S., Young, Sarah P.
Published in Molecular genetics and metabolism (01.07.2020)
Published in Molecular genetics and metabolism (01.07.2020)
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Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia
Waskowicz, Lauren R, Zhou, Jin, Landau, Dustin J, Brooks, Elizabeth D, Lim, Andrea, Yavarow, Zollie A, Kudo, Tsubasa, Zhang, Haoyue, Wu, Yajun, Grant, Stuart, Young, Sarah P, Huat, Bay Boon, Yen, Paul M, Koeberl, Dwight D
Published in Human molecular genetics (01.01.2019)
Published in Human molecular genetics (01.01.2019)
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Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2 8 vector-mediated gene therapy in murine phenylketonuria
HARDING, C. O, GILLINGHAM, M. B, HAMMAN, K, CLARK, H, GOEBEL-DAGHIGHI, E, BIRD, A, KOEBERL, D. D
Published in Gene therapy (01.03.2006)
Published in Gene therapy (01.03.2006)
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Successful AAV8 readministration: Suppression of capsid‐specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease
Choi, Su Jin, Yi, John S., Lim, Jeong‐A, Tedder, Thomas F., Koeberl, Dwight D., Jeck, William, Desai, Ankit K., Rosenberg, Amy, Sun, Baodong, Kishnani, Priya S.
Published in The journal of gene medicine (01.08.2023)
Published in The journal of gene medicine (01.08.2023)
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Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease
Zhang, Ping, Sun, Baodong, Osada, Takuya, Rodriguiz, Ramona, Yang, Xiao Yi, Luo, Xiaoyan, Kemper, Alex R, Clay, Timothy M, Koeberl, Dwight D
Published in Human gene therapy (01.05.2012)
Published in Human gene therapy (01.05.2012)
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Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency
VanDemark, Andrew P, Hrizo, Stacy L, Eicher, Samantha L, Kowalski, Jules, Myers, Tracey D, Pfeifer, Megan R, Riley, Kacie N, Koeberl, Dwight D, Palladino, Michael J
Published in Disease models & mechanisms (01.05.2022)
Published in Disease models & mechanisms (01.05.2022)
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Genome editing using Staphylococcus aureus Cas9 in a canine model of glycogen storage disease Ia
Arnson, Benjamin, Kang, Hye Ri, Brooks, Elizabeth D., Gheorghiu, Dorothy, Ilich, Ekaterina, Courtney, David, Everitt, Jeffrey I., Cullen, Bryan R., Koeberl, Dwight D.
Published in Molecular therapy. Methods & clinical development (08.06.2023)
Published in Molecular therapy. Methods & clinical development (08.06.2023)
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Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice
Gao, Junwei, Chen, Juxing, De Domenico, Ivana, Koeller, David M., Harding, Cary O., Fleming, Robert E., Koeberl, Dwight D., Enns, Caroline A.
Published in Blood (22.04.2010)
Published in Blood (22.04.2010)
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Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle
Koeberl, Dwight D., Luo, Xiaoyan, Sun, Baodong, McVie-Wylie, Alison, Dai, Jian, Li, Songtao, Banugaria, Suhrad G., Chen, Y.-T., Bali, Deeksha S.
Published in Molecular genetics and metabolism (01.06.2011)
Published in Molecular genetics and metabolism (01.06.2011)
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Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease
Wang, Jason, Zhou, Chris J., Khodabukus, Alastair, Tran, Sabrina, Han, Sang-Oh, Carlson, Aaron L., Madden, Lauran, Kishnani, Priya S., Koeberl, Dwight D., Bursac, Nenad
Published in Communications biology (05.05.2021)
Published in Communications biology (05.05.2021)
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Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy
Hannah, William B, Case, Laura E, Smith, Edward C, Walters, Crista, Bali, Deeksha, Kishnani, Priya S, Koeberl, Dwight D
Published in JIMD reports (01.09.2023)
Published in JIMD reports (01.09.2023)
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Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease
Sun, Baodong, Kulis, Michael D, Young, Sarah P, Hobeika, Amy C, Li, Songtao, Bird, Andrew, Zhang, Haoyue, Li, Yifan, Clay, Timothy M, Burks, Wesley, Kishnani, Priya S, Koeberl, Dwight D
Published in Molecular therapy (01.02.2010)
Published in Molecular therapy (01.02.2010)
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