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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Publicado en:J Biol Chem
Autores principales: 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
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2016
Materias:
Molecular Bases of Disease
Acceso en línea: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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