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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Xehetasun bibliografikoak
Argitaratua izan da:J Biol Chem
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2016
Gaiak:
Molecular Bases of Disease
Sarrera elektronikoa: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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