Ontology highlight
ABSTRACT:
SUBMITTER: Manoli I
PROVIDER: S-EPMC6328030 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Manoli Irini I Sysol Justin R JR Epping Madeline W MW Li Lina L Wang Cindy C Sloan Jennifer L JL Pass Alexandra A Gagné Jack J Ktena Yiouli P YP Li Lingli L Trivedi Niraj S NS Ouattara Bazoumana B Zerfas Patricia M PM Hoffmann Victoria V Abu-Asab Mones M Tsokos Maria G MG Kleiner David E DE Garone Caterina C Cusmano-Ozog Kristina K Enns Gregory M GM Vernon Hilary J HJ Andersson Hans C HC Grunewald Stephanie S Elkahloun Abdel G AG Girard Christiane L CL Schnermann Jurgen J DiMauro Salvatore S Andres-Mateos Eva E Vandenberghe Luk H LH Chandler Randy J RJ Venditti Charles P CP
JCI insight 20181206 23
Methylmalonic acidemia (MMA), an organic acidemia characterized by metabolic instability and multiorgan complications, is most frequently caused by mutations in methylmalonyl-CoA mutase (MUT). To define the metabolic adaptations in MMA in acute and chronic settings, we studied a mouse model generated by transgenic expression of Mut in the muscle. Mut-/-;TgINS-MCK-Mut mice accurately replicate the hepatorenal mitochondriopathy and growth failure seen in severely affected patients and were used to ...[more]