Cargando…

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

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 deficie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea, Cremonesi, Alessio, Carrella, Diego, Forny, Patrick, Kölker, Stefan, Diomedi Camassei, Francesca, Diaz, Francisca, Moraes, Carlos T., Di Bernardo, Diego, Baumgartner, Matthias R., Devuyst, Olivier
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033137/ https://www.ncbi.nlm.nih.gov/pubmed/32080200 http://dx.doi.org/10.1038/s41467-020-14729-8

Ejemplares similares

Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
por: Luciani, Alessandro, et al.
Publicado: (2020)

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency
por: Forny, Patrick, et al.
Publicado: (2014)

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
por: Forny, Patrick, et al.
Publicado: (2023)

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney
por: Festa, Beatrice Paola, et al.
Publicado: (2018)

Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease
por: Luciani, Alessandro, et al.
Publicado: (2020)

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
por: Chandler, Randy J, et al.
Publicado: (2007)

Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients
por: Mohamed, Sarar, et al.
Publicado: (2015)

Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress
por: Costanzo, Michele, et al.
Publicado: (2020)

Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus
por: Buck, Nicole E., et al.
Publicado: (2012)

Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line
por: Costanzo, Michele, et al.
Publicado: (2018)

Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for B(12) delivery and repair
por: Mascarenhas, Romila, et al.
Publicado: (2023)

Dataset of a comparative proteomics experiment in a methylmalonyl-CoA mutase knockout HEK 293 cell model
por: Costanzo, Michele, et al.
Publicado: (2020)

Itaconate Alters Succinate and Coenzyme A Metabolism via Inhibition of Mitochondrial Complex II and Methylmalonyl-CoA Mutase
por: Cordes, Thekla, et al.
Publicado: (2021)

Anaesthetic considerations in a patient with methylmalonyl-coenzyme A mutase deficiency
por: Shaikh, Nabila, et al.
Publicado: (2017)

Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants
por: Ghoraba, Dina A., et al.
Publicado: (2015)

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans
por: Bito, Tomohiro, et al.
Publicado: (2014)

Biological Activity of Pseudovitamin B(12) on Cobalamin-Dependent Methylmalonyl-CoA Mutase and Methionine Synthase in Mammalian Cultured COS-7 Cells
por: Bito, Tomohiro, et al.
Publicado: (2020)

Cofactor Selectivity in Methylmalonyl Coenzyme A Mutase, a Model Cobamide-Dependent Enzyme
por: Sokolovskaya, Olga M., et al.
Publicado: (2019)

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency
por: Almási, Tímea, et al.
Publicado: (2019)

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis
por: Krohn, Patrick, et al.
Publicado: (2022)

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
por: Abily-Donval, Lenaig, et al.
Publicado: (2017)

Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis
por: Olinger, Eric, et al.
Publicado: (2019)

Expression patterns of the aquaporin gene family during renal development: influence of genetic variability
por: Parreira, Kleber S., et al.
Publicado: (2009)

The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA
por: Dewulf, Joseph P., et al.
Publicado: (2019)

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency
por: Heuberger, Kathrin, et al.
Publicado: (2019)

Optimization and validation of a reversed-phase high performance liquid chromatography method for the measurement of bovine liver methylmalonyl-coenzyme a mutase activity
por: Ouattara, Bazoumana, et al.
Publicado: (2013)

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene
por: Waters, Paula J., et al.
Publicado: (2016)

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features
por: Diogo, Rui, et al.
Publicado: (2023)

Mitochondria, mitophagy, and metabolic disease: towards assembling the puzzle
por: Chen, Zhiyong, et al.
Publicado: (2020)

The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease
por: Berquez, Marine, et al.
Publicado: (2020)

Awakening sleeping beauty: production of propionic acid in Escherichia coli through the sbm operon requires the activity of a methylmalonyl-CoA epimerase
por: Gonzalez-Garcia, Ricardo Axayacatl, et al.
Publicado: (2017)

Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization
por: Berquez, Marine, et al.
Publicado: (2023)

Involvement of TRPC in the abnormal calcium influx observed in dystrophic (mdx) mouse skeletal muscle fibers
por: Vandebrouck, Clarisse, et al.
Publicado: (2002)

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease
por: Festa, Beatrice Paola, et al.
Publicado: (2019)

Molecular characteristics of plant UDP-arabinopyranose mutases
por: Saqib, Anam, et al.
Publicado: (2019)

Regulation of Macrophage Motility by the Water Channel Aquaporin-1: Crucial Role of M0/M2 Phenotype Switch
por: Tyteca, Donatienne, et al.
Publicado: (2015)

A Rare Ovarian Tumor: The Sclerosing Stromal You Do Not Expect—A Case Series in the Adolescent Population and a Literature Review
por: Lucchetti, Maria Chiara, et al.
Publicado: (2023)

The importance of chorismate mutase in the biocontrol potential of Trichoderma parareesei
por: Pérez, Esclaudys, et al.
Publicado: (2015)

Evidence for substrate-assisted catalysis in N-acetylphosphoglucosamine mutase
por: Raimi, Olawale G., et al.
Publicado: (2018)

Development of Anthraquinone Analogues as Phosphoglycerate Mutase 1 Inhibitors
por: Huang, Ke, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_u8pq0kmsut8r8jbf4un91krfo1