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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Biochim Biophys Acta Mol Basis Dis
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados