mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

Autor: Jingsong Cao, Minjung Choi, Eleonora Guadagnin, Maud Soty, Marine Silva, Vincent Verzieux, Edward Weisser, Arianna Markel, Jenny Zhuo, Shi Liang, Ling Yin, Andrea Frassetto, Anne-Renee Graham, Kristine Burke, Tatiana Ketova, Cosmin Mihai, Zach Zalinger, Becca Levy, Gilles Besin, Meredith Wolfrom, Barbara Tran, Christopher Tunkey, Erik Owen, Joe Sarkis, Athanasios Dousis, Vladimir Presnyak, Christopher Pepin, Wei Zheng, Lei Ci, Marjie Hard, Edward Miracco, Lisa Rice, Vi Nguyen, Mike Zimmer, Uma Rajarajacholan, Patrick F. Finn, Gilles Mithieux, Fabienne Rajas, Paolo G. V. Martini, Paloma H. Giangrande

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

Glycogen Storage Disease 1a (Gsd1a) is an inherited disorder caused by glucose 6-phosphatase (G6Pase-α) deficiency and characterized by hypoglycaemia and high risk of liver cancer. Here the authors develop a mRNA-based G6Pase-α delivery therapy tha

Externí odkaz: https://doaj.org/article/977236f43e9f4fb4a8b6a0322537f1cb

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

Autor: Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini

Publikováno v: Cell Reports, Vol 21, Iss 12, Pp 3548-3558 (2017)

Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although

Externí odkaz: https://doaj.org/article/48a6dc8892224dcc94c4537810ade1f9

Preclinical Immunogenicity and Efficacy of a Multiple Antigen-Presenting System (Maps) Sars Cov-2 Vaccine

Autor: Cieslewicz Brian, Daniel Makrinos, Heidi Burke, Dara Bree, Renuka Haridas, Ian Tonkiss, Yannic Bartsch, Galit Alter, Richard Malley, Gilles Besin

Despite the remarkable success of SARS CoV-2 vaccines, the rise of variants, some of which are more resistant to the effects of vaccination, highlights the potential need for additional COVID-19 vaccines. We used the Multiple Antigen Presenting Syste

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6128d1047bddb114f3513721e678d5b

mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

Autor: Christopher Tunkey, Minjung Choi, Wei Zheng, Gilles Besin, Lisa M. Rice, Andrea Frassetto, Athanasios Dousis, Edward J. Miracco, Uma Rajarajacholan, Erik Owen, Patrick Finn, Fabienne Rajas, Eleonora Guadagnin, Kristin E. Burke, Mike Zimmer, Vincent Verzieux, Christopher Pepin, Cosmin Mihai, meredith##Wolfrom, Maud Soty, Becca Levy, Joe Sarkis, Zach Zalinger, Barbara Tran, Marine Silva, Arianna Markel, Ling Yin, Paloma H. Giangrande, Vi Nguyen, Jingsong Cao, Marjie Hard, Paolo Martini, Gilles Mithieux, Jenny Zhuo, Shi Liang, Edward Weisser, Vladimir Presnyak, Anne-Renee##Graham, Tatiana Ketova, Lei Ci

Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.3090. ⟨10.1038/s41467-021-23318-2⟩
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

Glycogen Storage Disease 1a (GSD1a) is a rare, inherited metabolic disorder caused by deficiency of glucose 6-phosphatase (G6Pase-α). G6Pase-α is critical for maintaining interprandial euglycemia. GSD1a patients exhibit life-threatening hypoglycemi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdb1236707c2ddf86e727dfcbc9b5e5
http://europepmc.org/articles/PMC8149455

mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency

Autor: Andrea Frassetto, Gilles Besin, Jordan Santana, Joshua R. Schultz, Kimberly Ann Coughlan, Timothy Salerno, Edward J. Miracco, Lin T. Guey, Cosmin Mihai, Jenny Zhuo, Marianne Eybye, Jingsong Cao, Paloma H. Giangrande, Shi Liang, Ding An, E. Sathyajith Kumarasinghe, Mikel Galduroz, Aki Funahashi, Takeyori Saheki, Tatsuhiko Furukawa, Eishi Kuroda, Staci Sabnis, Paolo Martini, Patrick Finn, Christine Lukacs, Kerry Benenato, Becca Levy

Publikováno v: Mol Ther

Citrin deficiency is an autosomal recessive disorder caused by loss-of-function mutations in SLC25A13, encoding the liver-specific mitochondrial aspartate/glutamate transporter. It has a broad spectrum of clinical phenotypes, including life-threateni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c58b942635448d14337c7db655d937c
https://pubmed.ncbi.nlm.nih.gov/31056400