Ontology highlight
ABSTRACT:
SUBMITTER: Manoli I
PROVIDER: S-EPMC3746875 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Manoli Irini I Sysol Justin R JR Li Lingli L Houillier Pascal P Garone Caterina C Wang Cindy C Zerfas Patricia M PM Cusmano-Ozog Kristina K Young Sarah S Trivedi Niraj S NS Cheng Jun J Sloan Jennifer L JL Chandler Randy J RJ Abu-Asab Mones M Tsokos Maria M Elkahloun Abdel G AG Rosen Seymour S Enns Gregory M GM Berry Gerard T GT Hoffmann Victoria V DiMauro Salvatore S Schnermann Jurgen J Venditti Charles P CP
Proceedings of the National Academy of Sciences of the United States of America 20130729 33
Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT), is often complicated by end stage renal disease that is resistant to conventional therapies, including liver transplantation. To establish a viable model of MMA renal disease, Mut was expressed in the liver of Mut(-/-) mice as a stable transgene under the control of an albumin (INS-Alb-Mut) promoter. Mut(-/-);Tg(INS-Alb-Mut) mice, although completely rescued from neonatal letha ...[more]