Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria

Abstract Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly understood, which has contributed to...

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Main Authors: Matthew C. S. Denley, Monique S. Straub, Giulio Marcionelli, Miriam A. Güra, David Penton, Igor Delvendahl, Martin Poms, Beata Vekeriotaite, Sarah Cherkaoui, Federica Conte, Ferdinand von Meyenn, D. Sean Froese, Matthias R. Baumgartner
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-025-07828-z
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