12 nov | 2022 Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology. Ortuño-Costela, MDC , Cerrada, V, Moreno-Izquierdo, A, García-Consuegra, I, Laberthonnière, C, Delourme, M, Garesse, R , Arenas, J, Fuster García, C, García García, G, Millán, JM, Magdinier, F, Gallardo, ME . Int J Mol Sci - 23 (22) (PMID: 36430443) (doi:10.3390/ijms232213964)
13 mar | 2021 Mitochondrial DNA from osteoarthritic patients drives functional impairment of mitochondrial activity: a study on transmitochondrial cybrids. Dalmao-Fernández, A, Hermida-Gómez, T, Lund, J, Vazquez-Mosquera, ME, Rego-Pérez, I, Garesse, R , Blanco, FJ, Fernández-Moreno, M. Cytotherapy (PMID: 33727013) (doi:10.1016/j.jcyt.2020.08.010)
30 abr | 2020 Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons. Galera-Monge, T , Zurita-Díaz, F , Canals, I, Hansen, MG, Rufián-Vázquez, L, Ehinger, JK, Elmér, E, Martin, MA, Garesse, R , Ahlenius, H, Gallardo, ME . Int J Mol Sci - 21 (9) (PMID: 32366037) (doi:10.3390/ijms21093191)
17 mar | 2020 Correction: Enhanced tumorigenicity by mitochondrial DNA mild mutations. Cruz-Bermúdez, A , Vallejo, CG , Vicente-Blanco, RJ , Gallardo, ME , Fernández-Moreno, MÁ , Quintanilla, M , Garesse, R . Oncotarget - 11 (11) : 1006 (PMID: 32215189) (doi:10.18632/oncotarget.27522)
1 nov | 2019 The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way. Galera-Monge, T , Zurita-Díaz, F , Garesse, R , Gallardo, ME . J. Cell. Physiol. - 234 (11) : 19511-19522 (PMID: 30950033) (doi:10.1002/jcp.28549)
1 abr | 2019 Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A. Ortuño-Costela, MDC , Cerrada, V, García-López, M, Arenas, J, Martínez, J, Lucia, A, Garesse, R , Gallardo, ME . Stem Cell Res - 36 : 101418 (PMID: 30897488) (doi:10.1016/j.scr.2019.101418)
3 oct | 2018 Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Friederich, MW, Timal, S, Powell, CA, Dallabona, C, Kurolap, A, Palacios-Zambrano, S , Bratkovic, D, Derks, TGJ, Bick, D, Bouman, K, Chatfield, KC, Damouny-Naoum, N, Dishop, MK, Falik-Zaccai, TC, Fares, F, Fedida, A, Ferrero, I, Gallagher, RC, Garesse, R , Gilberti, M, González, C , Gowan, K, Habib, C, Halligan, RK, Kalfon, L, Knight, K, Lefeber, D, Mamblona, L , Mandel, H, Mory, A, Ottoson, J, Paperna, T, Pruijn, GJM, Rebelo-Guiomar, PF, Saada, A, Sainz, B , Salvemini, H, Schoots, MH, Smeitink, JA, Szukszto, MJ, Ter Horst, HJ, van den Brandt, F, van Spronsen, FJ, Veltman, JA, Wartchow, E, Wintjes, LT, Zohar, Y, Fernández-Moreno, MA , Baris, HN, Donnini, C, Minczuk, M, Rodenburg, RJ, Van Hove, JLK. Nat Commun - 9 (1) : 4065 (PMID: 30283131) (doi:10.1038/s41467-018-06250-w)
2 ago | 2018 Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene. Zurita-Díaz, F , Ortuño-Costela, MDC , Moreno-Izquierdo, A, Galbis, L, Millán, JM, Ayuso, C, Garesse, R , Gallardo, ME . Stem Cell Res - 31 : 152-156 (PMID: 30096711) (doi:10.1016/j.scr.2018.08.002)
1 abr | 2018 Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup. Ortuño-Costela, MDC , Moreno-Izquierdo, A, Garesse, R , Gallardo, ME . Stem Cell Res - 28 : 131-135 (PMID: 29471262) (doi:10.1016/j.scr.2018.02.009)
1 oct | 2017 Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg. Zurita-Díaz, F , Galera-Monge, T , Moreno-Izquierdo, A, Corton, M, Ayuso, C, Garesse, R , Gallardo, ME . Stem Cell Res - 24 : 81-84 (PMID: 29034899) (doi:10.1016/j.scr.2017.08.017)
1 ago | 2017 Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease. Ortuño-Costela, MDC , Rodríguez-Mancera, N, García-López, M, Zurita-Díaz, F , Moreno-Izquierdo, A, Lucía, A, Martín, MÁ, Garesse, R , Gallardo, ME . Stem Cell Res - 23 : 188-192 (PMID: 28925366) (doi:10.1016/j.scr.2017.07.020)
1 jun | 2017 Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study. Fernández-Moreno, M, Soto-Hermida, A, Vázquez-Mosquera, ME, Cortés-Pereira, E, Relaño, S, Hermida-Gómez, T, Pértega, S, Oreiro-Villar, N, Fernández-López, C, Garesse, R , Blanco, FJ, Rego-Pérez, I. Ann. Rheum. Dis. - 76 (6) : 1114-1122 (PMID: 27919866) (doi:10.1136/annrheumdis-2016-210131)
4 abr | 2017 Spotlight on the relevance of mtDNA in cancer. Cruz-Bermúdez, A, Vicente-Blanco, RJ, Gonzalez-Vioque, E, Provencio, M, Fernández-Moreno, MÁ, Garesse, R . Clin Transl Oncol - 19 (4) : 409-418 (PMID: 27778302) (doi:10.1007/s12094-016-1561-6)
15 nov | 2016 Human COA3 Is an Oligomeric Highly Flexible Protein in Solution. Neira, JL, Martínez-Rodríguez, S, Hernández-Cifre, JG, Cámara-Artigas, A, Clemente, P , Peralta, S , Fernández-Moreno, MÁ , Garesse, R , García de la Torre, J, Rizzuti, B. Biochemistry - 55 (45) : 6209-6220 (PMID: 27791355) (doi:10.1021/acs.biochem.6b00644)
1 nov | 2016 iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons. Galera, T, Zurita-Díaz, F , Garesse, R , Gallardo, ME . J. Cell. Physiol. - 231 (11) : 2317-2318 (PMID: 27018482) (doi:10.1002/jcp.25386)
20 oct | 2016 Generating Rho-0 Cells Using Mesenchymal Stem Cell Lines. Fernández-Moreno, M, Hermida-Gómez, T, Gallardo, ME , Dalmao-Fernández, A, Rego-Pérez, I, Garesse, R , Blanco, FJ. PLoS ONE - 11 (10) : e0164199 (PMID: 27764131) (doi:10.1371/journal.pone.0164199)
6 mayo | 2016 [Reproducibility of biomedical research: Quo vadis?]. Dal-Ré, R, Bernad, A, Garesse, R . Med Clin (Barc) - 146 (9) : 408-412 (PMID: 26776486) (doi:10.1016/j.medcli.2015.11.029)
1 mayo | 2016 Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene. Galera-Monge, T , Zurita-Díaz, F , Moreno-Izquierdo, A, Fraga, MF, Fernández, AF, Ayuso, C, Garesse, R , Gallardo, ME . Stem Cell Res - 16 (3) : 673-676 (PMID: 27346197) (doi:10.1016/j.scr.2016.03.011)
1 mayo | 2016 Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene. Galera-Monge, T , Zurita-Díaz, F , González-Páramos, C , Moreno-Izquierdo, A, Fraga, MF, Fernández, AF, Garesse, R , Gallardo, ME . Stem Cell Res - 16 (3) : 766-769 (PMID: 27346203) (doi:10.1016/j.scr.2016.04.012)
19 ene | 2016 Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity. Cruz-Bermúdez, A , Vicente-Blanco, RJ , Hernández-Sierra, R , Montero, M, Alvarez, J, González Manrique, M, Blázquez, A, Martín, MA, Ayuso, C, Garesse, R , Fernández-Moreno, MA . PLoS ONE - 11 (1) : e0146816 (PMID: 26784702) (doi:10.1371/journal.pone.0146816)
1 ene | 2016 Generation of a human control iPSC line with a European mitochondrial haplogroup U background. Galera, T, Zurita, F, González-Páramos, C , Moreno-Izquierdo, A, Fraga, MF, Fernández, AF, Garesse, R , Gallardo, ME . Stem Cell Res - 16 (1) : 88-91 (PMID: 27345790) (doi:10.1016/j.scr.2015.12.010)
1 ene | 2016 Generation of a human iPSC line from a patient with a defect of intergenomic communication. Zurita, F, Galera, T, González-Páramos, C , Moreno-Izquierdo, A, Schneiderat, P, Fraga, MF, Fernández, AF, Garesse, R , Gallardo, ME . Stem Cell Res - 16 (1) : 120-123 (PMID: 27345795) (doi:10.1016/j.scr.2015.12.016)
1 ene | 2016 Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene. Zurita-Díaz, F , Galera-Monge, T , Moreno-Izquierdo, A, Fraga, MF, Ayuso, C, Fernández, AF, Garesse, R , Gallardo, ME . Stem Cell Res - 16 (1) : 124-127 (PMID: 27345796) (doi:10.1016/j.scr.2015.12.019)
1 ene | 2016 Generation of a human iPSC line from a patient with Leigh syndrome. Galera, T, Zurita, F, González-Páramos, C , Moreno-Izquierdo, A, Fraga, MF, Fernández, AF, Garesse, R , Gallardo, ME . Stem Cell Res - 16 (1) : 63-66 (PMID: 27345786) (doi:10.1016/j.scr.2015.12.005)
1 jul | 2015 Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model. Martínez-Morentin, L, Martínez, L , Piloto, S, Yang, H, Schon, EA, Garesse, R , Bodmer, R, Ocorr, K, Cervera, M , Arredondo, JJ . Hum. Mol. Genet. - 24 (13) : 3608-3622 (PMID: 25792727) (doi:10.1093/hmg/ddv106)
30 mayo | 2015 Enhanced tumorigenicity by mitochondrial DNA mild mutations. Cruz-Bermúdez, A , Vallejo, CG , Vicente-Blanco, RJ , Gallardo, ME , Fernández-Moreno, MÁ , Quintanilla, M , Garesse, R . Oncotarget - 6 (15) : 13628-13643 (PMID: 25909222) (doi:10.18632/oncotarget.3698)
8 dic | 2014 Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype. Zabalza, R, Nurminen, A, Kaguni, LS, Garesse, R , Gallardo, ME , Bornstein, B . BMC Res Notes - 7 : 883 (PMID: 25488682) (doi:10.1186/1756-0500-7-883)
1 mar | 2014 The pathogenicity scoring system for mitochondrial tRNA mutations revisited. González-Vioque, E , Bornstein, B , Gallardo, ME , Fernández-Moreno, MÁ , Garesse, R . Mol Genet Genomic Med - 2 (2) : 107-114 (PMID: 24689073) (doi:10.1002/mgg3.47)
6 ene | 2014 The thyroid hormone receptor β induces DNA damage and premature senescence. Zambrano, A , García-Carpizo, V , Gallardo, ME , Villamuera, R, Gómez-Ferrería, MA, Pascual, A , Buisine, N, Sachs, LM, Garesse, R , Aranda, A . J. Cell Biol. - 204 (1) : 129-146 (PMID: 24395638) (doi:10.1083/jcb.201305084)
1 oct | 2013 Drosophila nuclear factor DREF regulates the expression of the mitochondrial DNA helicase and mitochondrial transcription factor B2 but not the mitochondrial translation factor B1. Fernández-Moreno, MA , Hernández, R , Adán, C , Roberti, M, Bruni, F, Polosa, PL, Cantatore, P, Matsushima, Y, Kaguni, LS, Garesse, R . Biochim. Biophys. Acta - 1829 (10) : 1136-1146 (PMID: 23916463) (doi:10.1016/j.bbagrm.2013.07.006)
1 jul | 2013 Muscle-specific overexpression of the catalytic subunit of DNA polymerase γ induces pupal lethality in Drosophila melanogaster. Martínez-Azorín, F , Calleja, M, Hernández-Sierra, R , Farr, CL, Kaguni, LS, Garesse, R . Arch. Insect Biochem. Physiol. - 83 (3) : 127-137 (PMID: 23729397) (doi:10.1002/arch.21101)
1 jun | 2013 Evaluation of mitochondrial function and metabolic reprogramming during tumor progression in a cell model of skin carcinogenesis. Vallejo, CG , Cruz-Bermúdez, A , Clemente, P , Hernández-Sierra, R , Garesse, R , Quintanilla, M . Biochimie - 95 (6) : 1171-1176 (PMID: 23353111) (doi:10.1016/j.biochi.2013.01.001)
22 mar | 2013 hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria. Clemente, P , Peralta, S , Cruz-Bermudez, A, Echevarría, L, Fontanesi, F, Barrientos, A, Fernandez-Moreno, MA, Garesse, R . J. Biol. Chem. - 288 (12) : 8321-8331 (PMID: 23362268) (doi:10.1074/jbc.M112.422220)
28 ago | 2012 Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects. Sanchez-Martinez, A, Calleja, M, Peralta, S , Matsushima, Y, Hernandez-Sierra, R, Whitworth, AJ, Kaguni, LS, Garesse, R . PLoS ONE - 7 (8) : e43954 (PMID: 22952820) (doi:10.1371/journal.pone.0043954)
13 jul | 2012 Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function. Peralta, S , Clemente, P , Sánchez-Martínez, A , Calleja, M, Hernández-Sierra, R , Matsushima, Y, Adán, C , Ugalde, C, Fernández-Moreno, MÁ , Kaguni, LS, Garesse, R . J. Biol. Chem. - 287 (29) : 24174-24185 (PMID: 22610097) (doi:10.1074/jbc.M112.343764)
25 jun | 2012 Intracellular redox equilibrium is essential for the constitutive expression of AP-1 dependent genes in resting cells: studies on TGF-β1 regulation. González-Ramos, M, Mora, I, de Frutos, S, Garesse, R , Rodríguez-Puyol, M, Olmos, G, Rodríguez-Puyol, D. Int. J. Biochem. Cell Biol. - 44 (6) : 963-971 (PMID: 22429882) (doi:10.1016/j.biocel.2012.03.003)
12 mar | 2012 Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies. Arredondo, JJ , Gallardo, ME , García-Pavía, P, Domingo, V , Bretón, B, García-Silva, MT, Sedano, MJ, Martín, MA, Arenas, J, Cervera, M , Garesse, R , Bornstein, B . Mitochondrion - 12 (2) : 357-362 (PMID: 21986556) (doi:10.1016/j.mito.2011.09.010)
2 feb | 2012 Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients. Gallardo, ME , García-Pavía, P, Chamorro, R , Vázquez, ME, Gómez-Bueno, M, Millán, I, Almoguera, B, Domingo, V , Segovia, J, Vilches, C, Alonso-Pulpón, L, Garesse, R , Bornstein, B . Eur. Heart J. - 33 (3) : 346-353 (PMID: 21821846) (doi:10.1093/eurheartj/ehr280)
1 nov | 2011 Genetic basis of end-stage hypertrophic cardiomyopathy. Garcia-Pavia, P, Vázquez, ME, Segovia, J, Salas, C, Avellana, P, Gómez-Bueno, M, Vilches, C, Gallardo, ME , Garesse, R , Molano, J, Bornstein, B , Alonso-Pulpon, L. Eur. J. Heart Fail. - 13 (11) : 1193-1201 (PMID: 21896538) (doi:10.1093/eurjhf/hfr110)
2 oct | 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. Posada, IJ, Gallardo, ME , Domínguez, C, Rivera, H, Cabello, A, Arenas, J, Martín, MA, Garesse, R , Bornstein, B . Med Clin (Barc) - 135 (10) : 452-455 (PMID: 20576279) (doi:10.1016/j.medcli.2010.03.031)
1 ago | 2010 Animal models of mitochondrial DNA transactions in disease and ageing. Oliveira, MT, Garesse, R , Kaguni, LS. Exp. Gerontol. - 45 (7-8) : 489-502 (PMID: 20123011) (doi:10.1016/j.exger.2010.01.019)
1 jun | 2010 Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. Rivera, H, Merinero, B, Martinez-Pardo, M, Arroyo, I, Ruiz-Sala, P, Bornstein, B , Serra-Suhe, C, Gallardo, E , Marti, R, Moran, MJ, Ugalde, C, Perez-Jurado, LA, Andreu, AL, Garesse, R , Ugarte, M, Arenas, J, Martin, MA. Mitochondrion - 10 (4) : 362-368 (PMID: 20227526) (doi:10.1016/j.mito.2010.03.003)
15 mayo | 2010 MidA is a putative methyltransferase that is required for mitochondrial complex I function. Carilla-Latorre, S , Gallardo, ME , Annesley, SJ, Calvo-Garrido, J , Graña, O, Accari, SL, Smith, PK, Valencia, A, Garesse, R , Fisher, PR, Escalante, R . J. Cell. Sci. - 123 (Pt 10) : 1674-1683 (PMID: 20406883) (doi:10.1242/jcs.066076)
1 mar | 2009 The Drosophila nuclear factor DREF positively regulates the expression of the mitochondrial transcription termination factor DmTTF. Fernández-Moreno, MA , Bruni, F, Adán, C , Sierra, RH, Polosa, PL, Cantatore, P, Garesse, R , Roberti, M. Biochem. J. - 418 (2) : 453-462 (PMID: 19032147) (doi:10.1042/BJ20081174)
24 jun | 2008 Mitochondrial diseases mimicking neurotransmitter defects. Garcia-Cazorla, A, Duarte, S, Serrano, M, Nascimento, A, Ormazabal, A, Carrilho, I, Briones, P, Montoya, J, Garesse, R , Sala-Castellvi, P, Pineda, M, Artuch, R. Mitochondrion - 8 (3) : 273-278 (PMID: 18558519) (doi:10.1016/j.mito.2008.05.001)
2 mayo | 2008 Mitochondrial transcription factor B2 is essential for metabolic function in Drosophila melanogaster development. Adán, C , Matsushima, Y, Hernández-Sierra, R , Marco-Ferreres, R , Fernández-Moreno, MA , González-Vioque, E , Calleja, M, Aragón, JJ , Kaguni, LS, Garesse, R . J. Biol. Chem. - 283 (18) : 12333-12342 (PMID: 18308726) (doi:10.1074/jbc.M801342200)
28 abr | 2008 Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion. Martínez-Azorín, F , Calleja, M, Hernández-Sierra, R , Farr, CL, Kaguni, LS, Garesse, R . J. Neurochem. - 105 (1) : 165-176 (PMID: 17999718) (doi:10.1111/j.1471-4159.2007.05122.x)
1 feb | 2008 OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Amati-Bonneau, P, Valentino, ML, Reynier, P, Gallardo, ME, Bornstein, B , Boissière, A, Campos, Y, Rivera, H, de la Aleja, JG, Carroccia, R, Iommarini, L, Labauge, P, Figarella-Branger, D, Marcorelles, P, Furby, A, Beauvais, K, Letournel, F, Liguori, R, La Morgia, C, Montagna, P, Liguori, M, Zanna, C, Rugolo, M, Cossarizza, A, Wissinger, B, Verny, C, Schwarzenbacher, R, Martín, MA, Arenas, J, Ayuso, C, Garesse, R , Lenaers, G, Bonneau, D, Carelli, V. Brain - 131 (Pt 2) : 338-351 (PMID: 18158317) (doi:10.1093/brain/awm298)
1 oct | 2007 Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase. Rivera, H, Blázquez, A, Carretero, J, Alvarez-Cermeño, JC, Campos, Y, Cabello, A, Gonzalez-Vioque, E, Borstein, B, Garesse, R , Arenas, J, Martín, MA. Neuromuscul. Disord. - 17 (9-10) : 677-680 (PMID: 17614277) (doi:10.1016/j.nmd.2007.05.006)
1 abr | 2007 Drosophila melanogaster as a model system to study mitochondrial biology. Fernández-Moreno, MA , Farr, CL, Kaguni, LS, Garesse, R . Methods Mol. Biol. - 372 : 33-49 (PMID: 18314716) (doi:10.1007/978-1-59745-365-3_3)
1 abr | 2007 Functional analysis by inducible RNA interference in Drosophila melanogaster. Matsushima, Y, Adán, C , Garesse, R , Kaguni, LS. Methods Mol. Biol. - 372 : 207-217 (PMID: 18314728) (doi:10.1007/978-1-59745-365-3_15)
13 mayo | 2006 Modeling human mitochondrial diseases in flies. Sánchez-Martínez, A , Luo, N, Clemente, P , Adán, C , Hernández-Sierra, R , Ochoa, P , Fernández-Moreno, MA , Kaguni, LS, Garesse, R . Biochim. Biophys. Acta - 1757 (9-10) : 1190-1198 (PMID: 16806050) (doi:10.1016/j.bbabio.2006.05.008)
1 ene | 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. González-Vioque, E , Blázquez, A, Fernández-Moreira, D, Bornstein, B , Bautista, J, Arpa, J, Navarro, C, Campos, Y, Fernández-Moreno, MA , Garesse, R , Arenas, J, Martín, MA. Arch Neurol - 63 (1) : 107-111 (PMID: 16401742) (doi:10.1001/archneur.63.1.107)
1 nov | 2005 Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE. Blazquez, A, Martín, MA, Lara, MC, Martí, R, Campos, Y, Cabello, A, Garesse, R , Bautista, J, Andreu, AL, Arenas, J. Neuromuscul Disord - 15 (11) : 775-778 (PMID: 16198108) (doi:10.1016/j.nmd.2005.07.008)
1 ago | 2005 A Drosophila model of mitochondrial DNA replication: proteins, genes and regulation. Garesse, R , Kaguni, LS. IUBMB Life - 57 (8) : 555-561 (PMID: 16118113) (doi:10.1080/15216540500215572)
1 mayo | 2005 Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene. Bornstein, B , Mas, JA, Patrono, C, Fernández-Moreno, MA , González-Vioque, E , Campos, Y, Carrozzo, R, Martín, MA, del Hoyo, P, Santorelli, FM, Arenas, J, Garesse, R . Biochem. J. - 387 (Pt 3) : 773-778 (PMID: 15554876) (doi:10.1042/BJ20040949)
29 abr | 2005 Drosophila mitochondrial transcription factor B1 modulates mitochondrial translation but not transcription or DNA copy number in Schneider cells. Matsushima, Y, Adán, C , Garesse, R , Kaguni, LS. J. Biol. Chem. - 280 (17) : 16815-16820 (PMID: 15749697) (doi:10.1074/jbc.M500569200)
1 abr | 2005 Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Martín, MA, Blázquez, A, Gutierrez-Solana, LG, Fernández-Moreira, D, Briones, P, Andreu, AL, Garesse, R , Campos, Y, Arenas, J. Arch Neurol - 62 (4) : 659-661 (PMID: 15824269) (doi:10.1001/archneur.62.4.659)
21 ene | 2005 Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria. Navarro, S, Del Hoyo, P, Campos, Y, Abitbol, M, Morán-Jiménez, MJ, García-Bravo, M, Ochoa, P , Grau, M, Montagutelli, X, Frank, J, Garesse, R , Arenas, J, de Salamanca, RE, Fontanellas, A. Exp. Dermatol. - 14 (1) : 26-33 (PMID: 15660916) (doi:10.1111/j.0906-6705.2005.00248.x)
13 oct | 2004 Expression of the Drosophila melanogaster ATP synthase alpha subunit gene is regulated by a transcriptional element containing GAF and Adf-1 binding sites. Talamillo, A, Fernández-Moreno, MA , Martínez-Azorín, F , Bornstein, B , Ochoa, P , Garesse, R . Eur. J. Biochem. - 271 (20) : 4003-4013 (PMID: 15479229) (doi:10.1111/j.1432-1033.2004.04336.x)
25 jun | 2004 Drosophila mitochondrial transcription factor B2 regulates mitochondrial DNA copy number and transcription in schneider cells. Matsushima, Y, Garesse, R , Kaguni, LS. J. Biol. Chem. - 279 (26) : 26900-26905 (PMID: 15060065) (doi:10.1074/jbc.M401643200)
18 abr | 2003 Mutation analysis in 16 patients with mtDNA depletion. Carrozzo, R, Bornstein, B , Lucioli, S, Campos, Y, de la Pena, P, Petit, N, Dionisi-Vici, C, Vilarinho, L, Rizza, T, Bertini, E, Garesse, R , Santorelli, FM, Arenas, J. Hum. Mutat. - 21 (4) : 453-454 (PMID: 12655576) (doi:10.1002/humu.9135)
1 mar | 2003 Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-alpha in L929 cells. Sánchez-Alcázar, JA, Schneider, E, Hernández-Muñoz, I, Ruiz-Cabello, J, Siles-Rivas, E, de la Torre, P, Bornstein, B , Brea, G, Arenas, J, Garesse, R , Solís-Herruzo, JA, Knox, AJ, Navas, P. Biochem. J. - 370 (Pt 2) : 609-619 (PMID: 12470298) (doi:10.1042/BJ20021623)
14 ene | 2003 Myoglobinuria and COX deficiency in a patient taking cerivastatin and gemfibrozil. Arenas, J, Fernández-Moreno, MA , Molina, JA, Fernández, V, del Hoyo, P, Campos, Y, Calvo, P, Martín, MA, García, A, Moreno, T, Martínez-Salio, A, Börnstein, B , Bermejo, F, Cabello, A, Garesse, R . Neurology - 60 (1) : 124-126 (PMID: 12525734)
21 mar | 2002 The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines. Bornstein, B , Mas, JA , Fernández-Moreno, MA , Campos, Y, Martín, MA, del Hoyo, P, Rubio, JC, Arenas, J, Garesse, R . Hum. Mutat. - 19 (3) : 234-239 (PMID: 11857739) (doi:10.1002/humu.10050)
9 oct | 2001 Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family. de la Peña, P, Bornstein, B , del Hoyo, P, Fernández-Moreno, MA , Martín, MA, Campos, Y, Gómez-Escalonilla, C, Molina, JA, Cabello, A, Arenas, J, Garesse, R . Neurology - 57 (7) : 1235-1238 (PMID: 11591842)
1 oct | 2001 Identification of a proximal promoter region critical for the expression of the beta-F1-ATPase gene during Drosophila melanogaster development. Ugalde, C, Ochoa, P , Pérez, ML, Fernández-Moreno, MA , Calleja, M, Alahari, A, Kaguni, LS, Garesse, R . Mitochondrion - 1 (3) : 225-236 (PMID: 16120280)
17 sep | 2001 Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene. Campos, Y, García-Redondo, A, Fernández-Moreno, MA , Martínez-Pardo, M, Goda, G, Rubio, JC, Martín, MA, del Hoyo, P, Cabello, A, Bornstein, B , Garesse, R , Arenas, J. Ann. Neurol. - 50 (3) : 409-413 (PMID: 11558799)
1 jul | 2001 A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy. Campos, Y, Gámez, J, García, A, Andreu, AL, Rubio, JC, Martín, MA, del Hoyo, P, Navarro, C, Cervera, C, Garesse, R , Arenas, J. Neuromuscul. Disord. - 11 (5) : 477-480 (PMID: 11404120)
24 ene | 2001 Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes. Garesse, R , Vallejo, CG . Gene - 263 (1-2) : 1-16 (PMID: 11223238)
1 nov | 2000 The pathophysiology of mitochondrial biogenesis: towards four decades of mitochondrial DNA research. Fernández-Moreno, MA , Bornstein, B , Petit, N, Garesse, R . Mol. Genet. Metab. - 71 (3) : 481-495 (PMID: 11073716) (doi:10.1006/mgme.2000.3083)
20 oct | 2000 Differential regulation of the catalytic and accessory subunit genes of Drosophila mitochondrial DNA polymerase. Lefai, E , Fernandez-Moreno, MA , Alahari, A, Kaguni, LS, Garesse, R . J. Biol. Chem. - 275 (42) : 33123-33133 (PMID: 10930405) (doi:10.1074/jbc.M003024200)
1 sep | 2000 Overexpression of the catalytic subunit of DNA polymerase gamma results in depletion of mitochondrial DNA in Drosophila melanogaster. Lefai, E , Calleja, M, Ruiz de Mena, I, Lagina, AT, Kaguni, LS, Garesse, R . Mol. Gen. Genet. - 264 (1-2) : 37-46 (PMID: 11016831)
1 jul | 2000 The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes. Fernández-Moreno, MA , Bornstein, B , Campos, Y, Arenas, J, Garesse, R . Mol. Genet. Metab. - 70 (3) : 238-240 (PMID: 10924280) (doi:10.1006/mgme.2000.3005)
1 jun | 2000 The highly compact structure of the mitochondrial DNA polymerase genomic region of Drosophila melanogaster: functional and evolutionary implications. Lefai, E , Fernández-Moreno, MA , Kaguni, LS, Garesse, R . Insect Mol. Biol. - 9 (3) : 315-322 (PMID: 10886416)
5 mayo | 2000 Regulation of mitochondrial single-stranded DNA-binding protein gene expression links nuclear and mitochondrial DNA replication in drosophila. Ruiz De Mena, I, Lefai, E , Garesse, R , Kaguni, LS. J. Biol. Chem. - 275 (18) : 13628-13636 (PMID: 10788480)
24 dic | 1999 Structure and regulated expression of the delta-aminolevulinate synthase gene from Drosophila melanogaster. Ruiz de Mena, I, Fernández-Moreno, MA , Bornstein, B , Kaguni, LS, Garesse, R . J. Biol. Chem. - 274 (52) : 37321-37328 (PMID: 10601299)
15 ene | 1999 A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. Arenas, J, Campos, Y, Bornstein, B , Ribacoba, R, Martín, MA, Rubio, JC, Santorelli, FM, Zeviani, M, DiMauro, S, Garesse, R . Neurology - 52 (2) : 377-382 (PMID: 9932960)
1 abr | 1998 [Studies of pathogenicity and characterization of molecular phenotype caused by mutations in human mitochondrial DNA]. Bornstein, B , Enríquez, JA, Montoya, J, Garesse, R . Rev Neurol - 26 Suppl 1 : S36-43 (PMID: 9810589)
27 feb | 1998 Mitochondrial gene expression and respiratory enzyme activities in cardiac diseases. Bornstein, B , Huertas, R, Ochoa, P , Campos, Y, Guillen, F, Garesse, R , Arenas, J. Biochim. Biophys. Acta - 1406 (1) : 85-90 (PMID: 9545545)
1 jul | 1997 Artemia mitochondrial genome: molecular biology and evolutive considerations. Garesse, R , Carrodeguas, JA, Santiago, J, Pérez, ML, Marco, R , Vallejo, CG . Comp. Biochem. Physiol. B, Biochem. Mol. Biol. - 117 (3) : 357-366 (PMID: 9253173)
1 mar | 1996 Mitochondrial differentiation during the early development of the brine shrimp Artemia franciscana. Vallejo, CG , López, M, Ochoa, P , Manzanares, M , Garesse, R . Biochem. J. - 314 ( Pt 2) : 505-510 (PMID: 8670064)
1 ago | 1995 Thyroid hormone-regulated brain mitochondrial genes revealed by differential cDNA cloning. Vega-Núñez, E , Menéndez-Hurtado, A , Garesse, R , Santos, A , Perez-Castillo, A . J. Clin. Invest. - 96 (2) : 893-899 (PMID: 7635984) (doi:10.1172/JCI118136)
1 oct | 1994 The complete mitochondrial DNA sequence of the crustacean Artemia franciscana. Ramón Valverde, J, Batuecas, B, Moratilla, C , Marco, R , Garesse, R . J. Mol. Evol. - 39 (4) : 400-408 (PMID: 7966370)
7 jun | 1994 A conserved heptamer motif for ribosomal RNA transcription termination in animal mitochondria. Valverde, JR, Marco, R , Garesse, R . Proc. Natl. Acad. Sci. U.S.A. - 91 (12) : 5368-5371 (PMID: 7515499)
15 sep | 1993 The beta subunit of the Drosophila melanogaster ATP synthase: cDNA cloning, amino acid analysis and identification of the protein in adult flies. Peña, P , Garesse, R . Biochem. Biophys. Res. Commun. - 195 (2) : 785-791 (PMID: 8373413) (doi:10.1006/bbrc.1993.2114)
5 sep | 1993 Mitochondrial DNA remains intact during Drosophila aging, but the levels of mitochondrial transcripts are significantly reduced. Calleja, M, Peña, P , Ugalde, C, Ferreiro, C, Marco, R , Garesse, R . J. Biol. Chem. - 268 (25) : 18891-18897 (PMID: 8395521)
1 ago | 1993 Genomic organization and developmental pattern of expression of the engrailed gene from the brine shrimp Artemia. Manzanares, M , Marco, R , Garesse, R . Development - 118 (4) : 1209-1219 (PMID: 7903633)
1 feb | 1981 Storage of mitochondria in the yolk platelets of Artemia dormant gastrulae. Marco, R , Garesse, R , Vallejo, CG . Cell Mol Biol Incl Cyto Enzymol - 27 (5) : 515-522 (PMID: 7326705)
1 mayo | 1980 The unmasking of proteolytic activity during the early development of Artemia salina. Identification of a precursor after hatching. Garesse, R , Perona, R , Marco, R , Vallejo, CG . Eur. J. Biochem. - 106 (1) : 225-231 (PMID: 7042331)
1 sep | 1979 A fluorescamine-based sensitive method for the assay of proteinases, capable of detecting the initial cleavage steps of a protein. Garesse, R , Castell, JV, Vallejo, CG , Marco, R . Eur. J. Biochem. - 99 (2) : 253-259 (PMID: 40790)