Multiple pathways coordinate assembly of human mitochondrial complex IV and stabilization of respiratory supercomplexes
Lobo‐Jarne, Teresa, Pérez‐Pérez, Rafael, Fontanesi, Flavia, Timón‐Gómez, Alba, Wittig, Ilka, Peñas, Ana, Serrano‐Lorenzo, Pablo, García‐Consuegra, Inés, Arenas, Joaquín, Martín, Miguel A, Barrientos, Antoni, Ugalde, Cristina
Published in The EMBO journal (15.07.2020)
Published in The EMBO journal (15.07.2020)
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Journal Article
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
Argente‐Escrig, Herminia, Vílchez, Juan J., Frasquet, Marina, Muelas, Nuria, Azorín, Inmaculada, Vílchez, Roger, Millet‐Sancho, Elvira, Pitarch, Inmaculada, Tomás‐Vila, Miguel, Vázquez‐Costa, Juan F., Mas‐Estellés, Fernando, Marco‐Marín, Clara, Espinós, Carmen, Serrano‐Lorenzo, Pablo, Martin, Miguel A., Lupo, Vincenzo, Sevilla, Teresa
Published in Neuropathology and applied neurobiology (01.08.2022)
Published in Neuropathology and applied neurobiology (01.08.2022)
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Journal Article
Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions
Serrano-Lorenzo, Pablo, Gobelli, Dino, Garrido-Moraga, Rocío, Esteban-Amo, María J, López-López, José R, Orduña, Antonio, de la Fuente, Miguel A, Martín, Miguel A, Simarro, María
Published in PloS one (19.09.2023)
Published in PloS one (19.09.2023)
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Journal Article
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
Santalla, Alfredo, Nogales-Gadea, Gisela, Encinar, Alberto Blázquez, Vieitez, Irene, González-Quintana, Adrian, Serrano-Lorenzo, Pablo, Consuegra, Inés García, Asensio, Sara, Ballester-Lopez, Alfonsina, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Pareja-Galeano, Helios, Díez-Bermejo, Jorge, Pérez, Margarita, Andreu, Antoni L, Pinós, Tomàs, Arenas, Joaquín, Martín, Miguel A, Lucia, Alejandro
Published in BMC genomics (14.11.2017)
Published in BMC genomics (14.11.2017)
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Journal Article
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene
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
Published in International journal of molecular sciences (16.01.2023)
Published in International journal of molecular sciences (16.01.2023)
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Journal Article
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
García-Consuegra, Inés, Asensio-Peña, Sara, Garrido-Moraga, Rocío, Pinós, Tomàs, Domínguez-González, Cristina, Santalla, Alfredo, Nogales-Gadea, Gisela, Serrano-Lorenzo, Pablo, Andreu, Antoni L, Arenas, Joaquín, Zugaza, José L, Lucia, Alejandro, Martín, Miguel A
Published in International journal of molecular sciences (22.04.2022)
Published in International journal of molecular sciences (22.04.2022)
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Journal Article
The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages
Gobelli, Dino, Serrano-Lorenzo, Pablo, Esteban-Amo, María J., Serna, Julia, Pérez-García, M. Teresa, Orduña, Antonio, Jourdain, Alexis A., Martín-Casanueva, Miguel Á., Á. de la Fuente, Miguel, Simarro, María
Published in iScience (18.08.2023)
Published in iScience (18.08.2023)
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Journal Article
Plasma LDH: A specific biomarker for lung affectation in COVID-19?
Serrano-Lorenzo, Pablo, Coya, Olga N., López-Jimenez, Ana, Blázquez, Alberto, Delmiro, Aitor, Lucia, Alejandro, Arenas, Joaquín, Martín, Miguel A., Santos-Lozano, Alejandro, Cueto-Felgueroso, Cecilia, Pozo, Alba Fernández-del, de Miguel-Reyes, Montserrat
Published in Practical laboratory medicine (01.05.2021)
Published in Practical laboratory medicine (01.05.2021)
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Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report
Bermejo-Guerrero, Laura, Hernández-Voth, Ana, Serrano-Lorenzo, Pablo, Blázquez, Alberto, Martin-Jimenez, Paloma, Martin, Miguel A., Domínguez-González, Cristina
Published in Mitochondrion (01.05.2024)
Published in Mitochondrion (01.05.2024)
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Journal Article
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Rodríguez-López, Claudia, García-Cárdaba, Luis M., Blázquez, Alberto, Serrano-Lorenzo, Pablo, Gutiérrez-Gutiérrez, Gerardo, San Millán-Tejado, Beatriz, Muelas, Nuria, Hernández-Laín, Aurelio, Vílchez, Juan J., Gutiérrez-Rivas, Eduardo, Arenas, Joaquín, Martín, Miguel A., Domínguez-González, Cristina
Published in Journal of medical genetics (01.09.2020)
Published in Journal of medical genetics (01.09.2020)
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Journal Article
The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I
García Del Río, Ana, Delmiro, Aitor, Martín, Miguel Angel, Cantalapiedra, Roberto, Carretero, Raquel, Durántez, Carlos, Menegotto, Fabiola, Morán, María, Serrano-Lorenzo, Pablo, De la Fuente, Miguel Angel, Orduña, Antonio, Simarro, María
Published in The Journal of immunology (1950) (15.11.2018)
Published in The Journal of immunology (1950) (15.11.2018)
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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the ILDHA/I Gene
Serrano-Lorenzo, Pablo, Rabasa, María, Esteban, Jesús, Hidalgo Mayoral, Irene, Domínguez-González, Cristina, Blanco-Echevarría, Agustín, Garrido-Moraga, Rocío, Lucia, Alejandro, Blázquez, Alberto, Rubio, Juan C, Palma-Milla, Carmen, Arenas, Joaquín, Martín, Miguel A
Published in Genes (01.10.2022)
Published in Genes (01.10.2022)
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Journal Article
Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions
Pablo Serrano-Lorenzo, Dino Gobelli, Rocío Garrido-Moraga, María J. Esteban-Amo, José R. López-López, Antonio Orduña, Miguel A. de la Fuente, Miguel A. Martín, María Simarro
Published in PloS one (01.01.2023)
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Published in PloS one (01.01.2023)
Journal Article
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Serrano-Lorenzo, Pablo, Rabasa, María, Esteban, Jesús, Hidalgo Mayoral, Irene, Domínguez-González, Cristina, Blanco-Echevarría, Agustín, Garrido-Moraga, Rocío, Lucia, Alejandro, Blázquez, Alberto, Rubio, Juan C, Palma-Milla, Carmen, Arenas, Joaquín, Martín, Miguel A
Published in Genes (11.10.2022)
Published in Genes (11.10.2022)
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Journal Article
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report
González-Quintana, Adrián, García-Consuegra, Inés, Belanger-Quintana, Amaya, Serrano-Lorenzo, Pablo, Lucia, Alejandro, Blázquez, Alberto, Docampo, Jorge, Ugalde, Cristina, Morán, María, Arenas, Joaquín, Martín, Miguel A
Published in Genes (26.07.2020)
Published in Genes (26.07.2020)
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Journal Article
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Ceballos, Francisco, Serrano-Lorenzo, Pablo, Bermejo-Guerrero, Laura, Blázquez, Alberto, Quesada-Espinosa, Juan F, Amigo, Jorge, Minguez, Pablo, Ayuso, Carmen, García-Arumí, Elena, Muelas, Nuria, Jaijo, Teresa, Nascimento, Andres, Galán-Rodriguez, Beatriz, Paradas, Carmen, Arenas, Joaquín, Carracedo, Angel, Martí, Ramon, Martín, Miguel A, Domínguez-González, Cristina
Published in Neurology. Genetics (01.04.2024)
Published in Neurology. Genetics (01.04.2024)
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Journal Article
A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population
Garcia-Solaesa, Virginia, Serrano-Lorenzo, Pablo, Ramos-Arroyo, Maria Antonia, Blázquez, Alberto, Pagola-Lorz, Inmaculada, Artigas-López, Mercè, Arenas, Joaquín, Martín, Miguel A, Jericó-Pascual, Ivonne
Published in Genes (10.10.2019)
Published in Genes (10.10.2019)
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Journal Article
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero-Molina, María Paz, Martín-Jiménez, Paloma, Blázquez, Alberto, Serrano-Lorenzo, Pablo, Lora, David, Morales-Conejo, Montserrat, González-Martínez, Irene, López-Jiménez, Elena Ana, Martín, Miguel A, Domínguez-González, Cristina
Published in Journal of clinical medicine (22.03.2023)
Published in Journal of clinical medicine (22.03.2023)
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Journal Article
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Serrano-Lorenzo, Pablo, Blázquez-Encinar, Alberto, Gutiérrez-Gutiérrez, Gerardo, Martínez-Vicente, Laura, Galán-Dávila, Lucía, García-García, Jorge, Arenas, Joaquín, Muelas, Nuria, Hernández-Laín, Aurelio, Domínguez-González, Cristina, Martín, Miguel A
Published in Journal of clinical medicine (22.12.2021)
Published in Journal of clinical medicine (22.12.2021)
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Journal Article