Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency

Human methylmalonyl-CoA epimerase (MCEE) catalyzes the interconversion of d-methylmalonyl-CoA and l-methylmalonyl-CoA in propionate catabolism. Autosomal recessive pathogenic variations in MCEE reportedly cause methylmalonic aciduria (MMAuria) in eleven patients. We investigated a cohort of 150 indi...

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Publicat a:Biochim Biophys Acta Mol Basis Dis
Autors principals: Heuberger, Kathrin, Bailey, Henry J., Burda, Patricie, Chaikuad, Apirat, Krysztofinska, Ewelina, Suormala, Terttu, Bürer, Céline, Lutz, Seraina, Fowler, Brian, Froese, D. Sean, Yue, Wyatt W., Baumgartner, Matthias R.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6525113/
https://ncbi.nlm.nih.gov/pubmed/30682498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2019.01.021
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