Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria
Matthew C.S. Denley, Monique S. Straub, Giulio Marcionelli, Miriam A. Güra, David Pentón, Igor Delvendahl, Martin Poms, Beata Vekeriotaite, Sarah Cherkaoui, Federica Conte, Ferdinand von Meyenn, D. Sean Froese, Matthias R. Baumgartner
This study uses patient-derived neurons to show mitochondrial dysfunction in MMA leads to neuronal exhaustion and altered excitability.
Communications Biology · Mar 11, 2025Peer-reviewedNeuroscience