Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups
Gómez-Durán, Aurora, Pacheu-Grau, David, López-Gallardo, Ester, Díez-Sánchez, Carmen, Montoya, Julio, López-Pérez, Manuel J., Ruiz-Pesini, Eduardo
Published in Human molecular genetics (01.09.2010)
Published in Human molecular genetics (01.09.2010)
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Journal Article
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation
Vela‐Sebastián, Ana, López‐Gallardo, Ester, Emperador, Sonia, Hernández‐Ainsa, Carmen, Pacheu‐Grau, David, Blanco, Ignacio, Ros, Andrea, Pascual‐Benito, Ester, Rabaneda‐Lombarte, Neus, Presas‐Rodríguez, Silvia, García‐Robles, Pilar, Montoya, Julio, Ruiz‐Pesini, Eduardo
Published in Clinical genetics (01.10.2022)
Published in Clinical genetics (01.10.2022)
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Journal Article
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis
López‐Gallardo, Ester, Cammarata‐Scalisi, Francisco, Emperador, Sonia, Hernández‐Ainsa, Carmen, Habbane, Mouna, Vela‐Sebastián, Ana, Bayona‐Bafaluy, María Pilar, Montoya, Julio, Ruiz‐Pesini, Eduardo
Published in Clinical genetics (01.05.2020)
Published in Clinical genetics (01.05.2020)
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Journal Article
Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?
Bayona-Bafaluy, M. Pilar, López-Gallardo, Ester, Emperador, Sonia, Pacheu-Grau, David, Montoya, Julio, Ruiz-Pesini, Eduardo
Published in Orphanet journal of rare diseases (19.08.2022)
Published in Orphanet journal of rare diseases (19.08.2022)
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Journal Article
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
Emperador, Sonia, López-Gallardo, Ester, Hernández-Ainsa, Carmen, Habbane, Mouna, Montoya, Julio, Bayona-Bafaluy, M Pilar, Ruiz-Pesini, Eduardo
Published in Orphanet journal of rare diseases (21.06.2019)
Published in Orphanet journal of rare diseases (21.06.2019)
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Journal Article
Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy
Gómez-Durán, Aurora, Pacheu-Grau, David, Martínez-Romero, Íñigo, López-Gallardo, Ester, López-Pérez, Manuel J., Montoya, Julio, Ruiz-Pesini, Eduardo
Published in Biochimica et biophysica acta (01.08.2012)
Published in Biochimica et biophysica acta (01.08.2012)
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Journal Article
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
Emperador, Sonia, Habbane, Mouna, López-Gallardo, Ester, Del Rio, Alejandro, Llobet, Laura, Mateo, Javier, Sanz-López, Ana María, Fernández-García, María José, Sánchez-Tocino, Hortensia, Benbunan-Ferreiro, Sol, Calabuig-Goena, María, Narvaez-Palazón, Carlos, Fernández-Vega, Beatriz, González-Iglesias, Hector, Urreizti, Roser, Artuch, Rafael, Pacheu-Grau, David, Bayona-Bafaluy, Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo
Published in Orphanet journal of rare diseases (06.04.2024)
Published in Orphanet journal of rare diseases (06.04.2024)
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Journal Article
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome
Garrido-Pérez, Nuria, Vela-Sebastián, Ana, López-Gallardo, Ester, Emperador, Sonia, Iglesias, Eldris, Meade, Patricia, Jiménez-Mallebrera, Cecilia, Montoya, Julio, Bayona-Bafaluy, M Pilar, Ruiz-Pesini, Eduardo
Published in International journal of molecular sciences (10.05.2020)
Published in International journal of molecular sciences (10.05.2020)
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Journal Article
Pathological Features in Paediatric Patients with TK2 Deficiency
Jou, Cristina, Nascimento, Andres, Codina, Anna, Montoya, Julio, López-Gallardo, Ester, Emperador, Sonia, Ruiz-Pesini, Eduardo, Montero, Raquel, Natera-de Benito, Daniel, Ortez, Carlos I., Marquez, Jesus, Zelaya, Maria V., Gutierrez-Mata, Alfonso, Badosa, Carmen, Carrera-García, Laura, Expósito-Escudero, Jesica, Roldán, Monica, Camara, Yolanda, Marti, Ramon, Ferrer, Isidre, Jimenez-Mallebrera, Cecilia, Artuch, Rafael
Published in International journal of molecular sciences (01.10.2022)
Published in International journal of molecular sciences (01.10.2022)
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Journal Article
Expanding the clinical phenotypes of MT-ATP6 mutations
López-Gallardo, Ester, Emperador, Sonia, Solano, Abelardo, Llobet, Laura, Martín-Navarro, Antonio, López-Pérez, Manuel José, Briones, Paz, Pineda, Mercedes, Artuch, Rafael, Barraquer, Elena, Jericó, Ivonne, Ruiz-Pesini, Eduardo, Montoya, Julio
Published in Human molecular genetics (01.12.2014)
Published in Human molecular genetics (01.12.2014)
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Journal Article
Septic patients with mitochondrial DNA haplogroup JT have higher respiratory complex IV activity and survival rate
Lorente, Leonardo, MD, PhD, Martín, María M., MD, PhD, López-Gallardo, Ester, PhD, Ferreres, José, MD, Solé-Violán, Jordi, MD, PhD, Labarta, Lorenzo, MD, Díaz, César, MD, Jiménez, Alejandro, PhD, Montoya, Julio, PhD, Ruiz-Pesini, Eduardo, PhD
Published in Journal of critical care (01.06.2016)
Published in Journal of critical care (01.06.2016)
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Journal Article
The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient
Emperador, Sonia, Vidal, Mariona, Hernández-Ainsa, Carmen, Ruiz-Ruiz, Cristina, Woods, Daniel, Morales-Becerra, Ana, Arruga, Jorge, Artuch, Rafael, López-Gallardo, Ester, Bayona-Bafaluy, M Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo
Published in Frontiers in neuroscience (09.02.2018)
Published in Frontiers in neuroscience (09.02.2018)
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Journal Article
Xenobiotics that affect oxidative phosphorylation alter differentiation of human adipose-derived stem cells at concentrations that are found in human blood
Llobet, Laura, Toivonen, Janne M, Montoya, Julio, Ruiz-Pesini, Eduardo, López-Gallardo, Ester
Published in Disease models & mechanisms (01.11.2015)
Published in Disease models & mechanisms (01.11.2015)
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Journal Article
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
Bujan, Nuria, Morén, Constanza, García-García, Francesc J, Blázquez, Alberto, Carnicer, Clara, Cortés, Ana Belén, González, Cristina, López-Gallardo, Ester, Lozano, Ester, Moliner, Sonia, Gort, Laura, Tobías, Ester, Delmiro, Aitor, Martin, Miguel Ángel, Fernández-Moreno, Miguel Ángel, Ruiz-Pesini, Eduardo, Garcia-Arumí, Elena, Rodríguez-Aguilera, Juan Carlos, Garrabou, Glòria
Published in Antioxidants (08.04.2022)
Published in Antioxidants (08.04.2022)
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Journal Article
Decrease of oxidative phosphorylation system function in severe septic patients
Lorente, Leonardo, MD, PhD, Martín, María M., MD, PhD, López-Gallardo, Ester, PhD, Blanquer, José, MD, PhD, Solé-Violán, Jordi, MD, PhD, Labarta, Lorenzo, MD, Díaz, César, MD, Jiménez, Alejandro, PhD, Montoya, Julio, PhD, Ruiz-Pesini, Eduardo, PhD
Published in Journal of critical care (01.10.2015)
Published in Journal of critical care (01.10.2015)
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Journal Article
CPEO and KSS differ in the percentage and location of the mtDNA deletion
López-Gallardo, Ester, López-Pérez, Manuel J, Montoya, Julio, Ruiz-Pesini, Eduardo
Published in Mitochondrion (01.09.2009)
Published in Mitochondrion (01.09.2009)
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Journal Article
Pharmacologic concentrations of linezolid modify oxidative phosphorylation function and adipocyte secretome
Llobet, Laura, Bayona-Bafaluy, M. Pilar, Pacheu-Grau, David, Torres-Pérez, Elena, Arbones-Mainar, José M., Navarro, M. Ángeles, Gómez-Díaz, Covadonga, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo
Published in Redox biology (01.10.2017)
Published in Redox biology (01.10.2017)
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Journal Article
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy
Martínez-Romero, Íñigo, Herrero-Martín, M Dolores, Llobet, Laura, Emperador, Sonia, Martín-Navarro, Antonio, Narberhaus, Bernat, Ascaso, Francisco J, López-Gallardo, Ester, Montoya, Julio, Ruiz-Pesini, Eduardo
Published in Clinical & experimental ophthalmology (01.12.2014)
Published in Clinical & experimental ophthalmology (01.12.2014)
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Journal Article
new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)
Herrero-Martín, María D, Pineda, Mercedes, Briones, Paz, López-Gallardo, Ester, Carreras, Magdalena, Benac, Mercedes, Angel Idoate, Miguel, Vilaseca, María A, Artuch, Rafael, López-Pérez, Manuel J, Ruiz-Pesini, Eduardo, Montoya, Julio
Published in Human mutation (01.08.2008)
Published in Human mutation (01.08.2008)
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Journal Article