Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

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, notabl...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Forny, Patrick, Schumann, Anke, Mustedanagic, Merima, Mathis, Déborah, Wulf, Marie-Angela, Nägele, Nadine, Langhans, Claus-Dieter, Zhakupova, Assem, Heeren, Joerg, Scheja, Ludger, Fingerhut, Ralph, Peters, Heidi L., Hornemann, Thorsten, Thony, Beat, Kölker, Stefan, Burda, Patricie, Froese, D. Sean, Devuyst, Olivier, Baumgartner, Matthias R.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2016
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5034050/
https://ncbi.nlm.nih.gov/pubmed/27519416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.747717
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