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.

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/234e7b45b1d0490a93784df24510bfa0
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spelling	oai:doaj.org-article:234e7b45b1d0490a93784df24510bfa02021-12-02T14:42:15ZImpaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency10.1038/s41467-020-14729-82041-1723https://doaj.org/article/234e7b45b1d0490a93784df24510bfa02020-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14729-8https://doaj.org/toc/2041-1723Methylmalonic 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.Alessandro LucianiAnke SchumannMarine BerquezZhiyong ChenDaniela NieriMario FailliHuguette DebaixBeatrice Paola FestaNatsuko TokonamiAndrea RaimondiAlessio CremonesiDiego CarrellaPatrick FornyStefan KölkerFrancesca Diomedi CamasseiFrancisca DiazCarlos T. MoraesDiego Di BernardoMatthias R. BaumgartnerOlivier DevuystNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-21 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
description	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.
format	article
author	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
author_facet	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
author_sort	Alessandro Luciani
title	Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
title_short	Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
title_full	Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
title_fullStr	Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
title_full_unstemmed	Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
title_sort	impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-coa mutase deficiency
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/234e7b45b1d0490a93784df24510bfa0
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Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

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