Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. Here the authors use cell and animal models to show that MMUT mutations lead to defective mitophagy and stress in kidney cells, contributing to the pathogenesis in methylmalonic acidemia patients.

Bibliografiske detaljer

Principais autores:	Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T. Moraes, Diego Di Bernardo, Matthias R. Baumgartner, Olivier Devuyst
Format:	Artigo
Sprog:	Inglês
Udgivet:	Nature Portfolio 2020-02-01
Serier:	Nature Communications
Online adgang:	https://doi.org/10.1038/s41467-020-14729-8
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