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Your search keyword '"Fernandez-Vizarra, Erika"' showing total 7 results
Start Over Author "Fernandez-Vizarra, Erika" Journal embo molecular medicine
7 results on '"Fernandez-Vizarra, Erika"'

2. miR‐181a/b downregulation exerts a protective action on mitochondrial disease models

Author

Indrieri, Alessia, Carrella, Sabrina, Romano, Alessia, Spaziano, Alessandra, Marrocco, Elena, Fernandez‐Vizarra, Erika, Barbato, Sara, Pizzo, Mariateresa, Ezhova, Yulia, Golia, Francesca M, Ciampi, Ludovica, Tammaro, Roberta, Henao‐Mejia, Jorge, Williams, Adam, Flavell, Richard A, De Leonibus, Elvira, Zeviani, Massimo, Surace, Enrico M, Banfi, Sandro, and Franco, Brunella

Published
2019
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4. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Author

Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, Fernandez‐Vizarra, Erika, Cerutti, Raffaele, Reyes, Aurelio, Preziuso, Carmela, D'Amati, Giulia, Baruffini, Enrico, Goffrini, Paola, Viscomi, Carlo, Ferrero, Ileana, Boman, Helge, Telstad, Wenche, Johansson, Stefan, Glaser, Elzbieta, Knappskog, Per M, Zeviani, Massimo, and Bindoff, Laurence A

Published
2016
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5. APOPT 1/ COA 8 assists COX assembly and is oppositely regulated by UPS and ROS

Author

Signes, Alba, primary, Cerutti, Raffaele, additional, Dickson, Anna S, additional, Benincá, Cristiane, additional, Hinchy, Elizabeth C, additional, Ghezzi, Daniele, additional, Carrozzo, Rosalba, additional, Bertini, Enrico, additional, Murphy, Michael P, additional, Nathan, James A, additional, Viscomi, Carlo, additional, Fernandez‐Vizarra, Erika, additional, and Zeviani, Massimo, additional

Published
2018
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6. Defective PITRM 1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Author

Brunetti, Dario, primary, Torsvik, Janniche, additional, Dallabona, Cristina, additional, Teixeira, Pedro, additional, Sztromwasser, Pawel, additional, Fernandez‐Vizarra, Erika, additional, Cerutti, Raffaele, additional, Reyes, Aurelio, additional, Preziuso, Carmela, additional, D'Amati, Giulia, additional, Baruffini, Enrico, additional, Goffrini, Paola, additional, Viscomi, Carlo, additional, Ferrero, Ileana, additional, Boman, Helge, additional, Telstad, Wenche, additional, Johansson, Stefan, additional, Glaser, Elzbieta, additional, Knappskog, Per M, additional, Zeviani, Massimo, additional, and Bindoff, Laurence A, additional

Published
2015
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7. APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Author

Elizabeth C. Hinchy, Raffaele Cerutti, Rosalba Carrozzo, James A. Nathan, Erika Fernandez-Vizarra, Michael P. Murphy, Carlo Viscomi, Alba Signes, Daniele Ghezzi, Cristiane Benincá, Massimo Zeviani, Anna S Dickson, Enrico Bertini, Ghezzi, Daniele [0000-0002-9358-1566], Bertini, Enrico [0000-0001-9276-4590], Nathan, James A [0000-0002-0248-1632], Viscomi, Carlo [0000-0001-6050-0566], Fernandez-Vizarra, Erika [0000-0002-2469-142X], Zeviani, Massimo [0000-0002-9067-5508], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Medicine (General), APOPT1-COA8, QH426-470, medicine.disease_cause, APOPT1‐COA8, Mice, 0302 clinical medicine, cytochrome c oxidase, Cells, Cultured, Research Articles, chemistry.chemical_classification, Mice, Knockout, reactive oxygen species, Oxidase test, mitochondrial encephalopathy, proteasome–ubiquitin system, Animals, Apoptosis Regulatory Proteins, Electron Transport Complex IV, Genetic Complementation Test, Humans, Mitochondrial Proteins, Reactive Oxygen Species, Protein Multimerization, Unfolded Protein Response, Cultured, biology, Chemistry, Cell biology, Knockout mouse, Molecular Medicine, Research Article, Cells, Knockout, 03 medical and health sciences, R5-920, Genetics, medicine, Cytochrome c oxidase, Gene, Reactive oxygen species, 030104 developmental biology, Apoptosis, biology.protein, Genetics, Gene Therapy & Genetic Disease, 030217 neurology & neurosurgery, Function (biology), Oxidative stress
Abstract

Loss‐of‐function mutations in APOPT1, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome c oxidase (COX) deficiency. Although the genetic association of APOPT1 pathogenic variants with isolated COX defects is now clear, the biochemical link between APOPT1 function and COX has remained elusive. We investigated the molecular role of APOPT1 using different approaches. First, we generated an Apopt1 knockout mouse model which shows impaired motor skills, e.g., decreased motor coordination and endurance, associated with reduced COX activity and levels in multiple tissues. In addition, by achieving stable expression of wild‐type APOPT1 in control and patient‐derived cultured cells we ruled out a role of this protein in apoptosis and established instead that this protein is necessary for proper COX assembly and function. On the other hand, APOPT1 steady‐state levels were shown to be controlled by the ubiquitination–proteasome system (UPS). Conversely, in conditions of increased oxidative stress, APOPT1 is stabilized, increasing its mature intramitochondrial form and thereby protecting COX from oxidatively induced degradation.

Published
2018

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