Search Results - "Ugalde, Cristina"

Distinct Roles of Mitochondrial HIGD1A and HIGD2A in Respiratory Complex and Supercomplex Biogenesis by Timón-Gómez, Alba, Garlich, Joshua, Stuart, Rosemary A., Ugalde, Cristina, Barrientos, Antoni

“…The mitochondrial respiratory chain enzymes are organized as individual complexes and supercomplexes, whose biogenesis remains to be fully understood. To…”
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Mitochondrial Complex I Plays an Essential Role in Human Respirasome Assembly by Moreno-Lastres, David, Fontanesi, Flavia, García-Consuegra, Inés, Martín, Miguel A., Arenas, Joaquín, Barrientos, Antoni, Ugalde, Cristina

“…The biogenesis and function of the mitochondrial respiratory chain (RC) involve the organization of RC enzyme complexes in supercomplexes or respirasomes…”
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Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism by Baden, Pascale, Perez, Maria Jose, Raji, Hariam, Bertoli, Federico, Kalb, Stefanie, Illescas, María, Spanos, Fokion, Giuliano, Claudio, Calogero, Alessandra Maria, Oldrati, Marvin, Hebestreit, Hannah, Cappelletti, Graziella, Brockmann, Kathrin, Gasser, Thomas, Schapira, Anthony H. V., Ugalde, Cristina, Deleidi, Michela

“…Mutations in GBA1 , the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher’s disease, are the most frequent genetic risk…”
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Mitochondrial respiratory chain dysfunction: Implications in neurodegeneration by Morán, María, Moreno-Lastres, David, Marín-Buera, Lorena, Arenas, Joaquín, Martín, Miguel A., Ugalde, Cristina

“…For decades mitochondria have been considered static round-shaped organelles in charge of energy production. In contrast, they are highly dynamic cellular…”
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Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics by Lobo-Jarne, Teresa, Nývltová, Eva, Pérez-Pérez, Rafael, Timón-Gómez, Alba, Molinié, Thibaut, Choi, Austin, Mourier, Arnaud, Fontanesi, Flavia, Ugalde, Cristina, Barrientos, Antoni

“…The mitochondrial respiratory chain is organized in a dynamic set of supercomplexes (SCs). The COX7A2L protein is essential for mammalian SC III2+IV assembly…”
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Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure by Lisowski, Pawel, Lickfett, Selene, Rybak-Wolf, Agnieszka, Menacho, Carmen, Le, Stephanie, Pentimalli, Tancredi Massimo, Notopoulou, Sofia, Dykstra, Werner, Oehler, Daniel, López-Calcerrada, Sandra, Mlody, Barbara, Otto, Maximilian, Wu, Haijia, Richter, Yasmin, Roth, Philipp, Anand, Ruchika, Kulka, Linda A. M., Meierhofer, David, Glazar, Petar, Legnini, Ivano, Telugu, Narasimha Swamy, Hahn, Tobias, Neuendorf, Nancy, Miller, Duncan C., Böddrich, Annett, Polzin, Amin, Mayatepek, Ertan, Diecke, Sebastian, Olzscha, Heidi, Kirstein, Janine, Ugalde, Cristina, Petrakis, Spyros, Cambridge, Sidney, Rajewsky, Nikolaus, Kühn, Ralf, Wanker, Erich E., Priller, Josef, Metzger, Jakob J., Prigione, Alessandro

“…Expansion of the glutamine tract (poly-Q) in the protein huntingtin (HTT) causes the neurodegenerative disorder Huntington’s disease (HD). Emerging evidence…”
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COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation by Pérez-Pérez, Rafael, Lobo-Jarne, Teresa, Milenkovic, Dusanka, Mourier, Arnaud, Bratic, Ana, García-Bartolomé, Alberto, Fernández-Vizarra, Erika, Cadenas, Susana, Delmiro, Aitor, García-Consuegra, Inés, Arenas, Joaquín, Martín, Miguel A., Larsson, Nils-Göran, Ugalde, Cristina

“…Mitochondrial respiratory chain (MRC) complexes I, III, and IV associate into a variety of supramolecular structures known as supercomplexes and respirasomes…”
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Regulation of Mitochondrial Function by the Actin Cytoskeleton by Illescas, María, Peñas, Ana, Arenas, Joaquín, Martín, Miguel A, Ugalde, Cristina

“…The regulatory role of actin cytoskeleton on mitochondrial function is a growing research field, but the underlying molecular mechanisms remain poorly…”
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A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene by Amate-García, Guillermo, Ballesta-Martínez, María Juliana, Serrano-Lorenzo, Pablo, Garrido-Moraga, Rocío, González-Quintana, Adrián, Blázquez, Alberto, Rubio, Juan C, García-Consuegra, Inés, Arenas, Joaquín, Ugalde, Cristina, Morán, María, Guillén-Navarro, Encarnación, Martín, Miguel A

“…We report a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis and isolated complex I deficiency. Using a customized next-generation…”
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CBL/CAP Is Essential for Mitochondria Respiration Complex I Assembly and Bioenergetics Efficiency in Muscle Cells by Aye, Cho-Cho, Hammond, Dean E, Rodriguez-Cuenca, Sergio, Doherty, Mary K, Whitfield, Phillip D, Phelan, Marie M, Yang, Chenjing, Perez-Perez, Rafael, Li, Xiaoxin, Diaz-Ramos, Angels, Peddinti, Gopal, Oresic, Matej, Vidal-Puig, Antonio, Zorzano, Antonio, Ugalde, Cristina, Mora, Silvia

“…CBL is rapidly phosphorylated upon insulin receptor activation. Mice whole body CBL depletion improved insulin sensitivity and glucose clearance; however, the…”
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Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders by Peñas, Ana, Fernández-De la Torre, Miguel, Laine-Menéndez, Sara, Lora, David, Illescas, María, García-Bartolomé, Alberto, Morales-Conejo, Montserrat, Arenas, Joaquín, Martín, Miguel A., Morán, María, Domínguez-González, Cristina, Ugalde, Cristina

“…Mitochondrial disorders (MD) comprise a group of heterogeneous clinical disorders for which non-invasive diagnosis remains a challenge. Two protein biomarkers…”
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Protocol for the Analysis of Yeast and Human Mitochondrial Respiratory Chain Complexes and Supercomplexes by Blue Native Electrophoresis by Timón-Gómez, Alba, Pérez-Pérez, Rafael, Nyvltova, Eva, Ugalde, Cristina, Fontanesi, Flavia, Barrientos, Antoni

“…By using negatively charged Coomassie brilliant blue G-250 dye to induce a charge shift on proteins, blue native polyacrylamide gel electrophoresis (BN-PAGE)…”
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Cytoplasmic gelsolin increases mitochondrial activity and reduces Aβ burden in a mouse model of Alzheimer's disease by Antequera, Desiree, Vargas, Teo, Ugalde, Cristina, Spuch, Carlos, Molina, Jose Antonio, Ferrer, Isidro, Bermejo-Pareja, Felix, Carro, Eva

“…Abstract Accumulation of amyloid-β (Aβ) peptides is thought to be a critical event in the pathology of Alzheimer's disease (AD), because they induce multiple…”
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Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies by Ugalde, Cristina, Vogel, Rutger, Huijbens, Richard, van den Heuvel, Bert, Smeitink, Jan, Nijtmans, Leo

“…With 46 subunits, human mitochondrial complex I is the largest enzyme of the oxidative phosphorylation system. We have studied the assembly of complex I in…”
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Mutant Mitochondrial Elongation Factor G1 and Combined Oxidative Phosphorylation Deficiency by Coenen, Marieke J.H, Antonicka, Hana, Ugalde, Cristina, Sasarman, Florin, Rossi, Rainer, Heister, J.G.A.M. Angelien, Newbold, Robert F, Trijbels, Frans J.M.F, van den Heuvel, Lambert P, Shoubridge, Eric A, Smeitink, Jan A.M

“…The causation of diseases involving the deficiency of more than one enzyme involved in the process of mitochondrial oxidative phosphorylation is unclear. This…”
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Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction by García-Bartolomé, Alberto, Peñas, Ana, Illescas, María, Bermejo, Verónica, López-Calcerrada, Sandra, Pérez-Pérez, Rafael, Marín-Buera, Lorena, Domínguez-González, Cristina, Arenas, Joaquín, Martín, Miguel A, Ugalde, Cristina

“…Mitochondrial oxidative phosphorylation (OXPHOS) defects are the primary cause of inborn errors of energy metabolism. Despite considerable progress on their…”
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Coiled Coil Domain-containing Protein 56 (CCDC56) Is a Novel Mitochondrial Protein Essential for Cytochrome c Oxidase Function by Peralta, Susana, Clemente, Paula, Sánchez-Martínez, Álvaro, Calleja, Manuel, Hernández-Sierra, Rosana, Matsushima, Yuichi, Adán, Cristina, Ugalde, Cristina, Fernández-Moreno, Miguel Ángel, Kaguni, Laurie S., Garesse, Rafael

“…In Drosophila melanogaster, the mitochondrial transcription factor B1 (d-mtTFB1) transcript contains in its 5′-untranslated region a conserved upstream open…”
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Respiratory chain supercomplexes: Structures, function and biogenesis by Lobo-Jarne, Teresa, Ugalde, Cristina

“…•The respirasome is the most abundant supercomplex in mammalian mitochondria.•The functional roles of the supercomplexes remain questioned.•There are two…”
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Human mitochondrial complex I assembly is mediated by NDUFAF1 by Vogel, Rutger O., Janssen, Rolf J. R. J., Ugalde, Cristina, Grovenstein, Melissa, Huijbens, Richard J, Visch, Henk‐Jan, van den Heuvel, Lambert P., Willems, Peter H., Zeviani, Massimo, Smeitink, Jan A. M., Nijtmans, Leo G. J.

“…Complex I (NADH:ubiquinone oxidoreductase) is the largest multiprotein enzyme of the oxidative phosphorylation system. Its assembly in human cells is poorly…”
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Impact of the mitochondrial genetic background in complex III deficiency by Gil Borlado, Mari Carmen, Moreno Lastres, David, Gonzalez Hoyuela, Maritza, Moran, Maria, Blazquez, Alberto, Pello, Rosa, Marin Buera, Lorena, Gabaldon, Toni, Garcia Peñas, Juan Jose, Martín, Miguel A, Arenas, Joaquin, Ugalde, Cristina

“…In recent years clinical evidence has emphasized the importance of the mtDNA genetic background that hosts a primary pathogenic mutation in the clinical…”
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