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

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.

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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: article
Langue:EN
Publié: Nature Portfolio 2020
Sujets:
Science
Q
Accès en ligne:https://doaj.org/article/234e7b45b1d0490a93784df24510bfa0
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Internet

https://doaj.org/article/234e7b45b1d0490a93784df24510bfa0

Documents similaires