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2 results on '"Carrella, Diego"'

1. Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

Author

Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong; https://orcid.org/0000-0003-0203-2930, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea; https://orcid.org/0000-0002-4563-386X, Cremonesi, Alessio, Carrella, Diego, Forny, Patrick; https://orcid.org/0000-0003-1877-2976, Kölker, Stefan, Camassei, Francesca Diomedi, Diaz, Francisca, Moraes, Carlos T, Di Bernardo, Diego; https://orcid.org/0000-0002-1911-7407, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767, Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong; https://orcid.org/0000-0003-0203-2930, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea; https://orcid.org/0000-0002-4563-386X, Cremonesi, Alessio, Carrella, Diego, Forny, Patrick; https://orcid.org/0000-0003-1877-2976, Kölker, Stefan, Camassei, Francesca Diomedi, Diaz, Francisca, Moraes, Carlos T, Di Bernardo, Diego; https://orcid.org/0000-0002-1911-7407, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, and Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767

Published
2020

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

Author

Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong; https://orcid.org/0000-0003-0203-2930, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea; https://orcid.org/0000-0002-4563-386X, Cremonesi, Alessio; https://orcid.org/0000-0002-1524-4169, Carrella, Diego, Forny, Patrick; https://orcid.org/0000-0003-1877-2976, Kölker, Stefan, Diomedi Camassei, Francesca, Diaz, Francisca, Moraes, Carlos T, Di Bernardo, Diego; https://orcid.org/0000-0002-1911-7407, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767, Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong; https://orcid.org/0000-0003-0203-2930, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea; https://orcid.org/0000-0002-4563-386X, Cremonesi, Alessio; https://orcid.org/0000-0002-1524-4169, Carrella, Diego, Forny, Patrick; https://orcid.org/0000-0003-1877-2976, Kölker, Stefan, Diomedi Camassei, Francesca, Diaz, Francisca, Moraes, Carlos T, Di Bernardo, Diego; https://orcid.org/0000-0002-1911-7407, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, and Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767

Abstract

Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl-coenzyme A mutase (MMUT). How MMUT deficiency triggers cell damage remains unknown, preventing the development of disease-modifying therapies. Here we combine genetic and pharmacological approaches to demonstrate that MMUT deficiency induces metabolic and mitochondrial alterations that are exacerbated by anomalies in PINK1/Parkin-mediated mitophagy, causing the accumulation of dysfunctional mitochondria that trigger epithelial stress and ultimately cell damage. Using drug-disease network perturbation modelling, we predict targetable pathways, whose modulation repairs mitochondrial dysfunctions in patient-derived cells and alleviate phenotype changes in mmut-deficient zebrafish. These results suggest a link between primary MMUT deficiency, diseased mitochondria, mitophagy dysfunction and epithelial stress, and provide potential therapeutic perspectives for MMA.

Published
2020

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