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Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

Abstract Methylmalonyl‐CoA mutase (MMUT) is part of the propionyl‐CoA catabolic pathway, responsible for the breakdown of branched‐chain amino acids, odd‐chain fatty acids and the side‐chain of cholesterol. Patients with deficient activity of MMUT suffer from isolated methylmalonic aciduria (MMAuria...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Marie Lucienne, Déborah Mathis, Nathan Perkins, Ralph Fingerhut, Matthias R. Baumgartner, D. Sean Froese
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley 2021-03-01
Schriftenreihe:JIMD Reports
Schlagworte:
catabolism
disease amelioration
fasting
Methylmalonic aciduria
methylmalonyl‐CoA mutase
mouse model
Online-Zugang:https://doi.org/10.1002/jmd2.12182
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