Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments. Here we employ multi-layered omics profiling combined with biochemical and clinical features of individuals with M...

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Detalles Bibliográficos
Autores principales: Forny, Patrick, Bonilla, Ximena, Lamparter, David, Shao, Wenguang, Plessl, Tanja, Frei, Caroline, Bingisser, Anna, Goetze, Sandra, van Drogen, Audrey, Harshman, Keith, Pedrioli, Patrick G. A., Howald, Cedric, Poms, Martin, Traversi, Florian, Bürer, Céline, Cherkaoui, Sarah, Morscher, Raphael J., Simmons, Luke, Forny, Merima, Xenarios, Ioannis, Aebersold, Ruedi, Zamboni, Nicola, Rätsch, Gunnar, Dermitzakis, Emmanouil T., Wollscheid, Bernd, Baumgartner, Matthias R., Froese, D. Sean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886552/
https://www.ncbi.nlm.nih.gov/pubmed/36717752
http://dx.doi.org/10.1038/s42255-022-00720-8

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