Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia
Balakrishnan, Bijina, An, Ding, Nguyen, Vi, DeAntonis, Christine, Martini, Paolo G.V., Lai, Kent
Published in Molecular therapy (08.01.2020)
Published in Molecular therapy (08.01.2020)
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Messenger RNA therapy for rare genetic metabolic diseases
Berraondo, Pedro, Martini, Paolo G V, Avila, Matias A, Fontanellas, Antonio
Published in Gut (01.07.2019)
Published in Gut (01.07.2019)
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mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease
Cao, Jingsong, Choi, Minjung, Guadagnin, Eleonora, Soty, Maud, Silva, Marine, Verzieux, Vincent, Weisser, Edward, Markel, Arianna, Zhuo, Jenny, Liang, Shi, Yin, Ling, Frassetto, Andrea, Graham, Anne-Renee, Burke, Kristine, Ketova, Tatiana, Mihai, Cosmin, Zalinger, Zach, Levy, Becca, Besin, Gilles, Wolfrom, Meredith, Tran, Barbara, Tunkey, Christopher, Owen, Erik, Sarkis, Joe, Dousis, Athanasios, Presnyak, Vladimir, Pepin, Christopher, Zheng, Wei, Ci, Lei, Hard, Marjie, Miracco, Edward, Rice, Lisa, Nguyen, Vi, Zimmer, Mike, Rajarajacholan, Uma, Finn, Patrick F, Mithieux, Gilles, Rajas, Fabienne, Martini, Paolo G V, Giangrande, Paloma H
Published in Nature communications (25.05.2021)
Published in Nature communications (25.05.2021)
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Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia
Jiang, Lei, Park, Ji-Sun, Yin, Ling, Laureano, Rodrigo, Jacquinet, Eric, Yang, Jinsong, Liang, Shi, Frassetto, Andrea, Zhuo, Jenny, Yan, Xinhua, Zhu, Xuling, Fortucci, Steven, Hoar, Kara, Mihai, Cosmin, Tunkey, Christopher, Presnyak, Vlad, Benenato, Kerry E., Lukacs, Christine M., Martini, Paolo G. V., Guey, Lin T.
Published in Nature communications (21.10.2020)
Published in Nature communications (21.10.2020)
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Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency
Truong, Brian, Allegri, Gabriella, Liu, Xiao-Bo, Burke, Kristine E., Zhu, Xuling, Cederbaum, Stephen D., Häberle, Johannes, Martini, Paolo G. V., Lipshutz, Gerald S.
Published in Proceedings of the National Academy of Sciences - PNAS (15.10.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (15.10.2019)
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Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates
Zhu, Xuling, Yin, Ling, Theisen, Matt, Zhuo, Jenny, Siddiqui, Summar, Levy, Becca, Presnyak, Vladimir, Frassetto, Andrea, Milton, Jaclyn, Salerno, Timothy, Benenato, Kerry E., Milano, Joe, Lynn, Andy, Sabnis, Staci, Burke, Kristine, Besin, Gilles, Lukacs, Christine M., Guey, Lin T., Finn, Patrick F., Martini, Paolo G.V.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency
Cao, Jingsong, An, Ding, Galduroz, Mikel, Zhuo, Jenny, Liang, Shi, Eybye, Marianne, Frassetto, Andrea, Kuroda, Eishi, Funahashi, Aki, Santana, Jordan, Mihai, Cosmin, Benenato, Kerry E., Kumarasinghe, E. Sathyajith, Sabnis, Staci, Salerno, Timothy, Coughlan, Kimberly, Miracco, Edward J., Levy, Becca, Besin, Gilles, Schultz, Joshua, Lukacs, Christine, Guey, Lin, Finn, Patrick, Furukawa, Tatsuhiko, Giangrande, Paloma H., Saheki, Takeyori, Martini, Paolo G.V.
Published in Molecular therapy (03.07.2019)
Published in Molecular therapy (03.07.2019)
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Systemic messenger RNA as an etiological treatment for acute intermittent porphyria
Jiang, Lei, Berraondo, Pedro, Jericó, Daniel, Guey, Lin T, Sampedro, Ana, Frassetto, Andrea, Benenato, Kerry E, Burke, Kristine, Santamaría, Eva, Alegre, Manuel, Pejenaute, Álvaro, Kalariya, Mayur, Butcher, William, Park, Ji-Sun, Zhu, Xuling, Sabnis, Staci, Kumarasinghe, E Sathyajith, Salerno, Timothy, Kenney, Matthew, Lukacs, Christine M, Ávila, Matías A, Martini, Paolo G V, Fontanellas, Antonio
Published in Nature medicine (01.12.2018)
Published in Nature medicine (01.12.2018)
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Journal Article
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
An, Ding, Schneller, Jessica L., Frassetto, Andrea, Liang, Shi, Zhu, Xuling, Park, Ji-Sun, Theisen, Matt, Hong, Sue-Jean, Zhou, Jenny, Rajendran, Raj, Levy, Becca, Howell, Rebecca, Besin, Gilles, Presnyak, Vladimir, Sabnis, Staci, Murphy-Benenato, Kerry E., Kumarasinghe, E. Sathyajith, Salerno, Timothy, Mihai, Cosmin, Lukacs, Christine M., Chandler, Randy J., Guey, Lin T., Venditti, Charles P., Martini, Paolo G.V.
Published in Cell reports (Cambridge) (19.12.2017)
Published in Cell reports (Cambridge) (19.12.2017)
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Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
Baek, Rena, Coughlan, Kimberly, Jiang, Lei, Liang, Min, Ci, Lei, Singh, Harkewal, Zhang, Hannah, Kaushal, Neeraj, Rajlic, Ivana Liric, Van, Linh, Dimen, Rain, Cavedon, Alexander, Yin, Ling, Rice, Lisa, Frassetto, Andrea, Guey, Lin, Finn, Patrick, Martini, Paolo G V
Published in Nature communications (07.05.2024)
Published in Nature communications (07.05.2024)
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Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency
Karadagi, Ahmad, Cavedon, Alex G, Zemack, Helen, Nowak, Greg, Eybye, Marianne E, Zhu, Xuling, Guadagnin, Eleonora, White, Rebecca A, Rice, Lisa M, Frassetto, Andrea L, Strom, Stephen, Jorns, Carl, Martini, Paolo G V, Ellis, Ewa
Published in Scientific reports (27.04.2020)
Published in Scientific reports (27.04.2020)
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Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3
Wei, Guangyan, Cao, Jingsong, Huang, Pinzhu, An, Ping, Badlani, Disha, Vaid, Kahini A., Zhao, Shuangshuang, Wang, David Q-H., Zhuo, Jenny, Yin, Ling, Frassetto, Andrea, Markel, Arianna, Presnyak, Vladimir, Gandham, Srujan, Hua, Serenus, Lukacs, Christine, Finn, Patrick F., Giangrande, Paloma H., Martini, Paolo G.V., Popov, Yury V.
Published in Journal of hepatology (01.06.2021)
Published in Journal of hepatology (01.06.2021)
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Recombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria
Córdoba, Karol M, Serrano-Mendioroz, Irantzu, Jericó, Daniel, Merino, María, Jiang, Lei, Sampedro, Ana, Alegre, Manuel, Corrales, Fernando, Garrido, María J, Martini, Paolo G V, Lanciego, José Luis, Prieto, Jesús, Berraondo, Pedro, Fontanellas, Antonio
Published in Science translational medicine (12.01.2022)
Published in Science translational medicine (12.01.2022)
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mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
Gurung, Sonam, Timmermand, Oskar Vilhelmsson, Perocheau, Dany, Gil-Martinez, Ana Luisa, Minnion, Magdalena, Touramanidou, Loukia, Fang, Sherry, Messina, Martina, Khalil, Youssef, Spiewak, Justyna, Barber, Abigail R, Edwards, Richard S, Pinto, Patricia Lipari, Finn, Patrick F, Cavedon, Alex, Siddiqui, Summar, Rice, Lisa, Martini, Paolo G V, Ridout, Deborah, Heywood, Wendy, Hargreaves, Ian, Heales, Simon, Mills, Philippa B, Waddington, Simon N, Gissen, Paul, Eaton, Simon, Ryten, Mina, Feelisch, Martin, Frassetto, Andrea, Witney, Timothy H, Baruteau, Julien
Published in Science translational medicine (10.01.2024)
Published in Science translational medicine (10.01.2024)
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Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells
Cao, Jingsong, Markel, Arianna, Hanahoe, Erin, Ketova, Tatiana, Mihai, Cosmin, Zalinger, Zach, Marquardt, David, Amato, Nicholas J., Cheng, Yi Min, Reid, David W., Dousis, Athanasios, Giangrande, Paloma H., Schultz, Joshua R., Martini, Paolo G. V., Finn, Patrick F.
Published in Amino acids (01.05.2023)
Published in Amino acids (01.05.2023)
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Improved therapeutic efficacy in two mouse models of methylmalonic acidemia (MMA) using a second-generation mRNA therapy
Coughlan, Kimberly A., Eybye, Marianne, Henderson, Nicholas, DeAntonis, Christine M., Frassetto, Andrea, Hanahoe, Erin, Ketova, Tatiana, Jacquinet, Eric, Presnyak, Vladimir, Jain, Ruchi, Marshall, John, Martini, Paolo G.V.
Published in Molecular genetics and metabolism (01.09.2024)
Published in Molecular genetics and metabolism (01.09.2024)
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Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model
Zhao, Xue-Jun, Mohsen, AI-Walid, Mihalik, Stephanie, Solo, Keaton, Aliu, Ermal, Shi, Huifang, Basu, Shakuntala, Kochersperger, Catherine, Van’t Land, Clinton, Karunanidhi, Anuradha, Coughlan, Kimberly A., Siddiqui, Summar, Rice, Lisa M., Hillier, Shawn, Guadagnin, Eleonora, Giangrande, Paloma H., Martini, Paolo G.V., Vockley, Jerry
Published in Molecular genetics and metabolism (01.01.2023)
Published in Molecular genetics and metabolism (01.01.2023)
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Journal Article
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia
Delnoy, Britt, Haskovic, Minela, Vanoevelen, Jo, Steinbusch, Laura K. M., Vos, Esther Naomi, Knoops, Kèvin, Zimmermann, Luc J. I., Noga, Marek, Lefeber, Dirk J., Martini, Paolo G. V., Coelho, Ana I., Rubio‐Gozalbo, Maria Estela
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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