Ontology highlight
ABSTRACT:
SUBMITTER: Forny P
PROVIDER: S-EPMC5034050 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Forny Patrick P Schumann Anke A Mustedanagic Merima M Mathis Déborah D Wulf Marie-Angela MA Nägele Nadine N Langhans Claus-Dieter CD Zhakupova Assem A Heeren Joerg J Scheja Ludger L Fingerhut Ralph R Peters Heidi L HL Hornemann Thorsten T Thony Beat B Kölker Stefan S Burda Patricie P Froese D Sean DS Devuyst Olivier O Baumgartner Matthias R MR
The Journal of biological chemistry 20160812 39
Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death. Survivors remain at risk of metabolic decompensations and severe long term complications, notably renal failure and neurological impairment. We generated clinically relevant mouse models of MMAuria using a constitutive Mut knock-in (KI) allele based on the p.Met700Lys patient mutation, used homo ...[more]