Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Paolo G. V. Martini"'
Autor:
Rena Baek, Kimberly Coughlan, Lei Jiang, Min Liang, Lei Ci, Harkewal Singh, Hannah Zhang, Neeraj Kaushal, Ivana Liric Rajlic, Linh Van, Rain Dimen, Alexander Cavedon, Ling Yin, Lisa Rice, Andrea Frassetto, Lin Guey, Patrick Finn, Paolo G. V. Martini
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Messenger RNA (mRNA) therapeutics delivered via lipid nanoparticles hold the potential to treat metabolic diseases caused by protein deficiency, including propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU). Here
Externí odkaz:
https://doaj.org/article/fc0132ec8a774c5fbcc5732a7b7a7a0e
Autor:
Edgar N. Tafaleng, Amitava Mukherjee, Aaron Bell, Kazutoyo Morita, Jorge Guzman‐Lepe, Nils Haep, Rodrigo M. Florentino, Ricardo Diaz‐Aragon, Carla Frau, Alina Ostrowska, Joshua R. Schultz, Paolo G. V. Martini, Alejandro Soto‐Gutierrez, Ira J. Fox
Publikováno v:
Hepatology Communications, Vol 5, Iss 11, Pp 1911-1926 (2021)
The only definitive therapy for end‐stage liver disease is whole‐organ transplantation. The success of this intervention is severely limited by the complexity of the surgery, the cost of patient care, the need for long‐term immunosuppression, a
Externí odkaz:
https://doaj.org/article/eefaa6013f164a9e83b52ff3fa2c4cc8
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
Autor:
Lei Jiang, Ji-Sun Park, Ling Yin, Rodrigo Laureano, Eric Jacquinet, Jinsong Yang, Shi Liang, Andrea Frassetto, Jenny Zhuo, Xinhua Yan, Xuling Zhu, Steven Fortucci, Kara Hoar, Cosmin Mihai, Christopher Tunkey, Vlad Presnyak, Kerry E. Benenato, Christine M. Lukacs, Paolo G. V. Martini, Lin T. Guey
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-10 (2020)
Propionic acidemia is a serious pediatric inherited disorder with no effective treatments. Here the authors demonstrate that delivering dual mRNAs as an enzyme replacement approach can be used as an effective therapy in a mouse model of propionic aci
Externí odkaz:
https://doaj.org/article/c8fd3846b2b840c782c81abf4afb2075
Autor:
Daniel Jericó, Karol M. Córdoba, Ana Sampedro, Lei Jiang, Gilles Joucla, Charlotte Cabanne, José Luis Lanciego, Paolo G. V. Martini, Pedro Berraondo, Matías A. Ávila, Antonio Fontanellas
Publikováno v:
Life, Vol 12, Iss 11, p 1858 (2022)
Rare diseases, especially monogenic diseases, which usually affect a single target protein, have attracted growing interest in drug research by encouraging pharmaceutical companies to design and develop therapeutic products to be tested in the clinic
Externí odkaz:
https://doaj.org/article/e85dc083829242d0a9443dcdb8a9237a
Autor:
Xue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, Keaton Solo, Shakuntala Basu, Ermal Aliu, Huifang Shi, Catherine Kochersberger, Anuradha Karunanidhi, Clinton Van’t Land, Kimberly A Coughlan, Summar Siddiqui, Lisa M Rice, Shawn Hillier, Eleonora Guadagnin, Christine DeAntonis, Paloma H Giangrande, Paolo G V Martini, Jerry Vockley
Publikováno v:
Human Molecular Genetics.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid β-oxidation (FAO) in humans. Patients exhibit clinical episodes often associated with fasting. Symptoms include hypoketotic hypog
Autor:
Jingsong Cao, Arianna Markel, Erin Hanahoe, Tatiana Ketova, Cosmin Mihai, Zach Zalinger, David Marquardt, Nicholas J. Amato, Yi Min Cheng, David W. Reid, Athanasios Dousis, Paloma H. Giangrande, Joshua R. Schultz, Paolo G. V. Martini, Patrick F. Finn
Publikováno v:
Amino Acids.
Glucose-6-phosphatase-α (G6Pase-α) catalyzes the hydrolysis of glucose-6-phosphate to glucose and functions as a key regulator in maintaining blood glucose homeostasis. Deficiency in G6Pase-α causes glycogen storage disease 1a (GSD1a), an inherite
Autor:
Karol M, Córdoba, Daniel, Jericó, Ana, Sampedro, Lei, Jiang, María J, Iraburu, Paolo G V, Martini, Pedro, Berraondo, Matías A, Avila, Antonio, Fontanellas
Publikováno v:
International review of cell and molecular biology. 372
Inborn errors of metabolism (IEM) encompass a group of monogenic diseases affecting both pediatric and adult populations and currently lack effective treatments. Some IEM such as familial hypercholesterolemia or X-linked protoporphyria are caused by
Autor:
Karol M. Córdoba, Irantzu Serrano-Mendioroz, Daniel Jericó, María Merino, Lei Jiang, Ana Sampedro, Manuel Alegre, Fernando Corrales, María J. Garrido, Paolo G. V. Martini, José Luis Lanciego, Jesús Prieto, Pedro Berraondo, Antonio Fontanellas
Publikováno v:
Science Translational Medicine. 14
Correction of enzymatic deficits in hepatocytes by systemic administration of a recombinant protein is a desired therapeutic goal for hepatic enzymopenic disorders such as acute intermittent porphyria (AIP), an inherited porphobilinogen deaminase (PB
Autor:
Britt Delnoy, Minela Haskovic, Jo Vanoevelen, Laura K. M. Steinbusch, Esther Naomi Vos, Kèvin Knoops, Luc J. I. Zimmermann, Marek Noga, Dirk J. Lefeber, Paolo G. V. Martini, Ana I. Coelho, Maria Estela Rubio‐Gozalbo
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Contains fulltext : 282590.pdf (Publisher’s version ) (Open Access) Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e2f4c19e9e2710f907c35fdb0be565
http://hdl.handle.net/2066/282590
http://hdl.handle.net/2066/282590