Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Steven Fortucci"'
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:
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 28-39 (2019)
Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT). AGT catalyzes the conversion of glyoxyl
Externí odkaz:
https://doaj.org/article/34d2d66e91a546d3a80cafe65ab1b4dd