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PUBLICACIONES

 

 

spacerTrabajos Publicados por Rafael Garesse Alarcón
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  1. Ortuño-Costela, M.D.C.; Cerrada, V.; Moreno-Izquierdo, A.; García-Consuegra, I.; Laberthonnière, C.; Delourme, M.; Garesse, R.; Arenas, J.; Fuster García, C.; García García, G.; Millán, J.M.; Magdinier, F.; Gallardo, M.E. "Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.". Int J Mol Sci. 23(22): . (2022). (PMID: 36430443).
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  2. Dalmao-Fernández, A.; Hermida-Gómez, T.; Lund, J.; Vazquez-Mosquera, M.E.; Rego-Pérez, I.; Garesse, R.; Blanco, F.J.; Fernández-Moreno, M. "Mitochondrial DNA from osteoarthritic patients drives functional impairment of mitochondrial activity: a study on transmitochondrial cybrids.". Cytotherapy. (): . (2021). (PMID: 33727013).
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  3. Galera-Monge, T.; Zurita-Díaz, F.; Canals, I.; Hansen, M.G.; Rufián-Vázquez, L.; Ehinger, J.K.; Elmér, E.; Martin, M.A.; Garesse, R.; Ahlenius, H.; Gallardo, M.E. "Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons.". Int J Mol Sci. 21(9): . (2020). (PMID: 32366037).
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  4. Cruz-Bermúdez, A.; Vallejo, C.G.; Vicente-Blanco, R.J.; Gallardo, M.E.; Fernández-Moreno, M.Á.; Quintanilla, M.; Garesse, R. "Correction: Enhanced tumorigenicity by mitochondrial DNA mild mutations.". Oncotarget. 11(11): 1006. (2020). (PMID: 32215189).
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  5. Galera-Monge, T.; Zurita-Díaz, F.; Garesse, R.; Gallardo, M.E. "The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way.". J. Cell. Physiol.. 234(11): 19511-19522. (2019). (PMID: 30950033).
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  6. Ortuño-Costela, M.D.C.; Cerrada, V.; García-López, M.; Arenas, J.; Martínez, J.; Lucia, A.; Garesse, R.; Gallardo, M.E. "Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A.". Stem Cell Res. 36(): 101418. (2019). (PMID: 30897488).
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  7. Friederich, M.W.; Timal, S.; Powell, C.A.; Dallabona, C.; Kurolap, A.; Palacios-Zambrano, S.; Bratkovic, D.; Derks, T.G.J.; Bick, D.; Bouman, K.; Chatfield, K.C.; Damouny-Naoum, N.; Dishop, M.K.; Falik-Zaccai, T.C.; Fares, F.; Fedida, A.; Ferrero, I.; Gallagher, R.C.; Garesse, R.; Gilberti, M.; González, C.; Gowan, K.; Habib, C.; Halligan, R.K.; Kalfon, L.; Knight, K.; Lefeber, D.; Mamblona, L.; Mandel, H.; Mory, A.; Ottoson, J.; Paperna, T.; Pruijn, G.J.M.; Rebelo-Guiomar, P.F.; Saada, A.; Sainz, B.; Salvemini, H.; Schoots, M.H.; Smeitink, J.A.; Szukszto, M.J.; Ter Horst, H.J.; van den Brandt, F.; van Spronsen, F.J.; Veltman, J.A.; Wartchow, E.; Wintjes, L.T.; Zohar, Y.; Fernández-Moreno, M.A.; Baris, H.N.; Donnini, C.; Minczuk, M.; Rodenburg, R.J.; Van Hove, J.L.K. "Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.". Nat Commun. 9(1): 4065. (2018). (PMID: 30283131).
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  8. Zurita-Díaz, F.; Ortuño-Costela, M.D.C.; Moreno-Izquierdo, A.; Galbis, L.; Millán, J.M.; Ayuso, C.; Garesse, R.; Gallardo, M.E. "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.". Stem Cell Res. 31(): 152-156. (2018). (PMID: 30096711).
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  9. Ortuño-Costela, M.D.C.; Moreno-Izquierdo, A.; Garesse, R.; Gallardo, M.E. "Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup.". Stem Cell Res. 28(): 131-135. (2018). (PMID: 29471262).
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  10. Zurita-Díaz, F.; Galera-Monge, T.; Moreno-Izquierdo, A.; Corton, M.; Ayuso, C.; Garesse, R.; Gallardo, M.E. "Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.". Stem Cell Res. 24(): 81-84. (2017). (PMID: 29034899).
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  11. Ortuño-Costela, M.D.C.; Rodríguez-Mancera, N.; García-López, M.; Zurita-Díaz, F.; Moreno-Izquierdo, A.; Lucía, A.; Martín, M.Á.; Garesse, R.; Gallardo, M.E. "Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.". Stem Cell Res. 23(): 188-192. (2017). (PMID: 28925366).
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  12. Fernández-Moreno, M.; Soto-Hermida, A.; Vázquez-Mosquera, M.E.; Cortés-Pereira, E.; Relaño, S.; Hermida-Gómez, T.; Pértega, S.; Oreiro-Villar, N.; Fernández-López, C.; Garesse, R.; Blanco, F.J.; Rego-Pérez, I. "Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study.". Ann. Rheum. Dis.. 76(6): 1114-1122. (2017). (PMID: 27919866).
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  13. Cruz-Bermúdez, A.; Vicente-Blanco, R.J.; Gonzalez-Vioque, E.; Provencio, M.; Fernández-Moreno, M.Á.; Garesse, R. "Spotlight on the relevance of mtDNA in cancer.". Clin Transl Oncol. 19(4): 409-418. (2017). (PMID: 27778302).
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  14. Neira, J.L.; Martínez-Rodríguez, S.; Hernández-Cifre, J.G.; Cámara-Artigas, A.; Clemente, P.; Peralta, S.; Fernández-Moreno, M.Á.; Garesse, R.; García de la Torre, J.; Rizzuti, B. "Human COA3 Is an Oligomeric Highly Flexible Protein in Solution.". Biochemistry. 55(45): 6209-6220. (2016). (PMID: 27791355).
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  15. Galera, T.; Zurita-Díaz, F.; Garesse, R.; Gallardo, M.E. "iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons.". J. Cell. Physiol.. 231(11): 2317-2318. (2016). (PMID: 27018482).
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  16. Fernández-Moreno, M.; Hermida-Gómez, T.; Gallardo, M.E.; Dalmao-Fernández, A.; Rego-Pérez, I.; Garesse, R.; Blanco, F.J. "Generating Rho-0 Cells Using Mesenchymal Stem Cell Lines.". PLoS ONE. 11(10): e0164199. (2016). (PMID: 27764131).
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  17. Galera-Monge, T.; Zurita-Díaz, F.; Moreno-Izquierdo, A.; Fraga, M.F.; Fernández, A.F.; Ayuso, C.; Garesse, R.; Gallardo, M.E. "Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.". Stem Cell Res. 16(3): 673-676. (2016). (PMID: 27346197).
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  18. Galera-Monge, T.; Zurita-Díaz, F.; González-Páramos, C.; Moreno-Izquierdo, A.; Fraga, M.F.; Fernández, A.F.; Garesse, R.; Gallardo, M.E. "Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.". Stem Cell Res. 16(3): 766-769. (2016). (PMID: 27346203).
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  19. Dal-Ré, R.; Bernad, A.; Garesse, R. "[Reproducibility of biomedical research: Quo vadis?].". Med Clin (Barc). 146(9): 408-412. (2016). (PMID: 26776486).
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  20. Cruz-Bermúdez, A.; Vicente-Blanco, R.J.; Hernández-Sierra, R.; Montero, M.; Alvarez, J.; González Manrique, M.; Blázquez, A.; Martín, M.A.; Ayuso, C.; Garesse, R.; Fernández-Moreno, M.A. "Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.". PLoS ONE. 11(1): e0146816. (2016). (PMID: 26784702).
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  21. Galera, T.; Zurita, F.; González-Páramos, C.; Moreno-Izquierdo, A.; Fraga, M.F.; Fernández, A.F.; Garesse, R.; Gallardo, M.E. "Generation of a human control iPSC line with a European mitochondrial haplogroup U background.". Stem Cell Res. 16(1): 88-91. (2016). (PMID: 27345790).
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  22. Zurita, F.; Galera, T.; González-Páramos, C.; Moreno-Izquierdo, A.; Schneiderat, P.; Fraga, M.F.; Fernández, A.F.; Garesse, R.; Gallardo, M.E. "Generation of a human iPSC line from a patient with a defect of intergenomic communication.". Stem Cell Res. 16(1): 120-123. (2016). (PMID: 27345795).
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  23. Zurita-Díaz, F.; Galera-Monge, T.; Moreno-Izquierdo, A.; Fraga, M.F.; Ayuso, C.; Fernández, A.F.; Garesse, R.; Gallardo, M.E. "Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.". Stem Cell Res. 16(1): 124-127. (2016). (PMID: 27345796).
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  24. Galera, T.; Zurita, F.; González-Páramos, C.; Moreno-Izquierdo, A.; Fraga, M.F.; Fernández, A.F.; Garesse, R.; Gallardo, M.E. "Generation of a human iPSC line from a patient with Leigh syndrome.". Stem Cell Res. 16(1): 63-66. (2016). (PMID: 27345786).
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  25. Martínez-Morentin, L.; Martínez, L.; Piloto, S.; Yang, H.; Schon, E.A.; Garesse, R.; Bodmer, R.; Ocorr, K.; Cervera, M.; Arredondo, J.J. "Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model.". Hum. Mol. Genet.. 24(13): 3608-3622. (2015). (PMID: 25792727).
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  26. Cruz-Bermúdez, A.; Vallejo, C.G.; Vicente-Blanco, R.J.; Gallardo, M.E.; Fernández-Moreno, M.Á.; Quintanilla, M.; Garesse, R. "Enhanced tumorigenicity by mitochondrial DNA mild mutations.". Oncotarget. 6(15): 13628-13643. (2015). (PMID: 25909222).
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  27. Zabalza, R.; Nurminen, A.; Kaguni, L.S.; Garesse, R.; Gallardo, M.E.; Bornstein, B. "Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.". BMC Res Notes. 7(): 883. (2014). (PMID: 25488682).
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  28. González-Vioque, E.; Bornstein, B.; Gallardo, M.E.; Fernández-Moreno, M.Á.; Garesse, R. "The pathogenicity scoring system for mitochondrial tRNA mutations revisited.". Mol Genet Genomic Med. 2(2): 107-114. (2014). (PMID: 24689073).
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  29. Zambrano, A.; García-Carpizo, V.; Gallardo, M.E.; Villamuera, R.; Gómez-Ferrería, M.A.; Pascual, A.; Buisine, N.; Sachs, L.M.; Garesse, R.; Aranda, A. "The thyroid hormone receptor β induces DNA damage and premature senescence.". J. Cell Biol.. 204(1): 129-146. (2014). (PMID: 24395638).
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  30. Fernández-Moreno, M.A.; Hernández, R.; Adán, C.; Roberti, M.; Bruni, F.; Polosa, P.L.; Cantatore, P.; Matsushima, Y.; Kaguni, L.S.; Garesse, R. "Drosophila nuclear factor DREF regulates the expression of the mitochondrial DNA helicase and mitochondrial transcription factor B2 but not the mitochondrial translation factor B1.". Biochim. Biophys. Acta. 1829(10): 1136-1146. (2013). (PMID: 23916463).
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  31. Martínez-Azorín, F.; Calleja, M.; Hernández-Sierra, R.; Farr, C.L.; Kaguni, L.S.; Garesse, R. "Muscle-specific overexpression of the catalytic subunit of DNA polymerase γ induces pupal lethality in Drosophila melanogaster.". Arch. Insect Biochem. Physiol.. 83(3): 127-137. (2013). (PMID: 23729397).
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  32. Vallejo, C.G.; Cruz-Bermúdez, A.; Clemente, P.; Hernández-Sierra, R.; Garesse, R.; Quintanilla, M. "Evaluation of mitochondrial function and metabolic reprogramming during tumor progression in a cell model of skin carcinogenesis.". Biochimie. 95(6): 1171-1176. (2013). (PMID: 23353111).
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  33. Clemente, P.; Peralta, S.; Cruz-Bermudez, A.; Echevarría, L.; Fontanesi, F.; Barrientos, A.; Fernandez-Moreno, M.A.; Garesse, R. "hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.". J. Biol. Chem.. 288(12): 8321-8331. (2013). (PMID: 23362268).
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  34. Sanchez-Martinez, A.; Calleja, M.; Peralta, S.; Matsushima, Y.; Hernandez-Sierra, R.; Whitworth, A.J.; Kaguni, L.S.; Garesse, R. "Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.". PLoS ONE. 7(8): e43954. (2012). (PMID: 22952820).
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  35. Peralta, S.; Clemente, P.; Sánchez-Martínez, A.; Calleja, M.; Hernández-Sierra, R.; Matsushima, Y.; Adán, C.; Ugalde, C.; Fernández-Moreno, M.Á.; Kaguni, L.S.; Garesse, R. "Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function.". J. Biol. Chem.. 287(29): 24174-24185. (2012). (PMID: 22610097).
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  36. González-Ramos, M.; Mora, I.; de Frutos, S.; Garesse, R.; Rodríguez-Puyol, M.; Olmos, G.; Rodríguez-Puyol, D. "Intracellular redox equilibrium is essential for the constitutive expression of AP-1 dependent genes in resting cells: studies on TGF-β1 regulation.". Int. J. Biochem. Cell Biol.. 44(6): 963-971. (2012). (PMID: 22429882).
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  37. Arredondo, J.J.; Gallardo, M.E.; García-Pavía, P.; Domingo, V.; Bretón, B.; García-Silva, M.T.; Sedano, M.J.; Martín, M.A.; Arenas, J.; Cervera, M.; Garesse, R.; Bornstein, B. "Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies.". Mitochondrion. 12(2): 357-362. (2012). (PMID: 21986556).
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  38. Gallardo, M.E.; García-Pavía, P.; Chamorro, R.; Vázquez, M.E.; Gómez-Bueno, M.; Millán, I.; Almoguera, B.; Domingo, V.; Segovia, J.; Vilches, C.; Alonso-Pulpón, L.; Garesse, R.; Bornstein, B. "Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients.". Eur. Heart J.. 33(3): 346-353. (2012). (PMID: 21821846).
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  39. Garcia-Pavia, P.; Vázquez, M.E.; Segovia, J.; Salas, C.; Avellana, P.; Gómez-Bueno, M.; Vilches, C.; Gallardo, M.E.; Garesse, R.; Molano, J.; Bornstein, B.; Alonso-Pulpon, L. "Genetic basis of end-stage hypertrophic cardiomyopathy.". Eur. J. Heart Fail.. 13(11): 1193-1201. (2011). (PMID: 21896538).
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  40. Posada, I.J.; Gallardo, M.E.; Domínguez, C.; Rivera, H.; Cabello, A.; Arenas, J.; Martín, M.A.; Garesse, R.; Bornstein, B. "[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].". Med Clin (Barc). 135(10): 452-455. (2010). (PMID: 20576279).
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  41. Oliveira, M.T.; Garesse, R.; Kaguni, L.S. "Animal models of mitochondrial DNA transactions in disease and ageing.". Exp. Gerontol.. 45(7-8): 489-502. (2010). (PMID: 20123011).
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  42. Rivera, H.; Merinero, B.; Martinez-Pardo, M.; Arroyo, I.; Ruiz-Sala, P.; Bornstein, B.; Serra-Suhe, C.; Gallardo, E.; Marti, R.; Moran, M.J.; Ugalde, C.; Perez-Jurado, L.A.; Andreu, A.L.; Garesse, R.; Ugarte, M.; Arenas, J.; Martin, M.A. "Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.". Mitochondrion. 10(4): 362-368. (2010). (PMID: 20227526).
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  43. Carilla-Latorre, S.; Gallardo, M.E.; Annesley, S.J.; Calvo-Garrido, J.; Graña, O.; Accari, S.L.; Smith, P.K.; Valencia, A.; Garesse, R.; Fisher, P.R.; Escalante, R. "MidA is a putative methyltransferase that is required for mitochondrial complex I function.". J. Cell. Sci.. 123(Pt 10): 1674-1683. (2010). (PMID: 20406883).
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  44. Fernández-Moreno, M.A.; Bruni, F.; Adán, C.; Sierra, R.H.; Polosa, P.L.; Cantatore, P.; Garesse, R.; Roberti, M. "The Drosophila nuclear factor DREF positively regulates the expression of the mitochondrial transcription termination factor DmTTF.". Biochem. J.. 418(2): 453-462. (2009). (PMID: 19032147).
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  45. 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. "Mitochondrial diseases mimicking neurotransmitter defects.". Mitochondrion. 8(3): 273-278. (2008). (PMID: 18558519).
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  46. Adán, C.; Matsushima, Y.; Hernández-Sierra, R.; Marco-Ferreres, R.; Fernández-Moreno, M.A.; González-Vioque, E.; Calleja, M.; Aragón, J.J.; Kaguni, L.S.; Garesse, R. "Mitochondrial transcription factor B2 is essential for metabolic function in Drosophila melanogaster development.". J. Biol. Chem.. 283(18): 12333-12342. (2008). (PMID: 18308726).
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  47. Martínez-Azorín, F.; Calleja, M.; Hernández-Sierra, R.; Farr, C.L.; Kaguni, L.S.; Garesse, R. "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.". J. Neurochem.. 105(1): 165-176. (2008). (PMID: 17999718).
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  48. Amati-Bonneau, P.; Valentino, M.L.; Reynier, P.; Gallardo, M.E.; Bornstein, B.; Boissière, A.; Campos, Y.; Rivera, H.; de la Aleja, J.G.; 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, M.A.; Arenas, J.; Ayuso, C.; Garesse, R.; Lenaers, G.; Bonneau, D.; Carelli, V. "OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.". Brain. 131(Pt 2): 338-351. (2008). (PMID: 18158317).
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  49. Fernández-Moreno, M.A.; Farr, C.L.; Kaguni, L.S.; Garesse, R. "Drosophila melanogaster as a model system to study mitochondrial biology.". Methods Mol. Biol.. 372(): 33-49. (2007). (PMID: 18314716).
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  50. Matsushima, Y.; Adán, C.; Garesse, R.; Kaguni, L.S. "Functional analysis by inducible RNA interference in Drosophila melanogaster.". Methods Mol. Biol.. 372(): 207-217. (2007). (PMID: 18314728).
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  51. Rivera, H.; Blázquez, A.; Carretero, J.; Alvarez-Cermeño, J.C.; Campos, Y.; Cabello, A.; Gonzalez-Vioque, E.; Borstein, B.; Garesse, R.; Arenas, J.; Martín, M.A. "Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.". Neuromuscul. Disord.. 17(9-10): 677-680. (2007). (PMID: 17614277).
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  52. Sánchez-Martínez, A.; Luo, N.; Clemente, P.; Adán, C.; Hernández-Sierra, R.; Ochoa, P.; Fernández-Moreno, M.A.; Kaguni, L.S.; Garesse, R. "Modeling human mitochondrial diseases in flies.". Biochim. Biophys. Acta. 1757(9-10): 1190-1198. (2006). (PMID: 16806050).
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  53. González-Vioque, E.; Blázquez, A.; Fernández-Moreira, D.; Bornstein, B.; Bautista, J.; Arpa, J.; Navarro, C.; Campos, Y.; Fernández-Moreno, M.A.; Garesse, R.; Arenas, J.; Martín, M.A. "Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.". Arch Neurol. 63(1): 107-111. (2006). (PMID: 16401742).
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  54. Blazquez, A.; Martín, M.A.; Lara, M.C.; Martí, R.; Campos, Y.; Cabello, A.; Garesse, R.; Bautista, J.; Andreu, A.L.; Arenas, J. "Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.". Neuromuscul Disord. 15(11): 775-778. (2005). (PMID: 16198108).
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  55. Garesse, R.; Kaguni, L.S. "A Drosophila model of mitochondrial DNA replication: proteins, genes and regulation.". IUBMB Life. 57(8): 555-561. (2005). (PMID: 16118113).
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  56. Bornstein, B.; Mas, J.A.; Patrono, C.; Fernández-Moreno, M.A.; González-Vioque, E.; Campos, Y.; Carrozzo, R.; Martín, M.A.; del Hoyo, P.; Santorelli, F.M.; Arenas, J.; Garesse, R. "Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.". Biochem. J.. 387(Pt 3): 773-778. (2005). (PMID: 15554876).
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  57. Matsushima, Y.; Adán, C.; Garesse, R.; Kaguni, L.S. "Drosophila mitochondrial transcription factor B1 modulates mitochondrial translation but not transcription or DNA copy number in Schneider cells.". J. Biol. Chem.. 280(17): 16815-16820. (2005). (PMID: 15749697).
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  58. Martín, M.A.; Blázquez, A.; Gutierrez-Solana, L.G.; Fernández-Moreira, D.; Briones, P.; Andreu, A.L.; Garesse, R.; Campos, Y.; Arenas, J. "Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.". Arch Neurol. 62(4): 659-661. (2005). (PMID: 15824269).
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  59. Navarro, S.; Del Hoyo, P.; Campos, Y.; Abitbol, M.; Morán-Jiménez, M.J.; García-Bravo, M.; Ochoa, P.; Grau, M.; Montagutelli, X.; Frank, J.; Garesse, R.; Arenas, J.; de Salamanca, R.E.; Fontanellas, A. "Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria.". Exp. Dermatol.. 14(1): 26-33. (2005). (PMID: 15660916).
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  60. Talamillo, A.; Fernández-Moreno, M.A.; Martínez-Azorín, F.; Bornstein, B.; Ochoa, P.; Garesse, R. "Expression of the Drosophila melanogaster ATP synthase alpha subunit gene is regulated by a transcriptional element containing GAF and Adf-1 binding sites.". Eur. J. Biochem.. 271(20): 4003-4013. (2004). (PMID: 15479229).
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  61. Matsushima, Y.; Garesse, R.; Kaguni, L.S. "Drosophila mitochondrial transcription factor B2 regulates mitochondrial DNA copy number and transcription in schneider cells.". J. Biol. Chem.. 279(26): 26900-26905. (2004). (PMID: 15060065).
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  62. 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, F.M.; Arenas, J. "Mutation analysis in 16 patients with mtDNA depletion.". Hum. Mutat.. 21(4): 453-454. (2003). (PMID: 12655576).
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  63. Sánchez-Alcázar, J.A.; 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, J.A.; Knox, A.J.; Navas, P. "Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-alpha in L929 cells.". Biochem. J.. 370(Pt 2): 609-619. (2003). (PMID: 12470298).
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