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Items: 1 to 50 of 101

1.

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. 2019 Nov;234(11):19511-19522. doi: 10.1002/jcp.28549. Epub 2019 Apr 4.

PMID:
30950033
2.

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. 2019 Apr;36:101418. doi: 10.1016/j.scr.2019.101418. Epub 2019 Mar 12.

3.

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 Jr, 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. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

4.

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. 2018 Aug;31:152-156. doi: 10.1016/j.scr.2018.08.002. Epub 2018 Aug 2.

5.

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. 2018 Apr;28:131-135. doi: 10.1016/j.scr.2018.02.009. Epub 2018 Feb 14.

6.

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. 2017 Oct;24:81-84. doi: 10.1016/j.scr.2017.08.017. Epub 2017 Aug 19.

7.

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. 2017 Aug;23:188-192. doi: 10.1016/j.scr.2017.07.020. Epub 2017 Jul 28.

8.

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. 2017 Jun;76(6):1114-1122. doi: 10.1136/annrheumdis-2016-210131. Epub 2016 Dec 5. Review.

9.

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. 2016 Nov 15;55(45):6209-6220. Epub 2016 Nov 4.

PMID:
27791355
10.

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. 2017 Apr;19(4):409-418. doi: 10.1007/s12094-016-1561-6. Epub 2016 Oct 24. Review.

PMID:
27778302
11.

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. 2016 Oct 20;11(10):e0164199. doi: 10.1371/journal.pone.0164199. eCollection 2016.

12.

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. 2016 May;16(3):766-9. doi: 10.1016/j.scr.2016.04.012. Epub 2016 Apr 18. No abstract available.

13.

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. 2016 May;16(3):673-6. doi: 10.1016/j.scr.2016.03.011. Epub 2016 Apr 13.

14.

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. 2016 Jan;16(1):124-7. doi: 10.1016/j.scr.2015.12.019. Epub 2015 Dec 29.

15.

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. 2016 Jan;16(1):120-3. doi: 10.1016/j.scr.2015.12.016. Epub 2015 Dec 28.

16.

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. 2016 Jan;16(1):88-91. doi: 10.1016/j.scr.2015.12.010. Epub 2015 Dec 15.

17.

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. 2016 Jan;16(1):63-6. doi: 10.1016/j.scr.2015.12.005. Epub 2015 Dec 12.

18.

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. 2016 Nov;231(11):2317-8. doi: 10.1002/jcp.25386. Epub 2016 Apr 7.

19.

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. 2016 Jan 19;11(1):e0146816. doi: 10.1371/journal.pone.0146816. eCollection 2016.

20.

[Reproducibility of biomedical research: Quo vadis?].

Dal-Ré R, Bernad A, Garesse R.

Med Clin (Barc). 2016 May 6;146(9):408-12. doi: 10.1016/j.medcli.2015.11.029. Epub 2016 Jan 6. Spanish. No abstract available.

21.

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. 2015 May 30;6(15):13628-43.

22.

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. 2015 Jul 1;24(13):3608-22. doi: 10.1093/hmg/ddv106. Epub 2015 Mar 19.

23.

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. 2014 Dec 8;7:883. doi: 10.1186/1756-0500-7-883.

24.

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. 2014 Mar;2(2):107-14. doi: 10.1002/mgg3.47. Epub 2013 Nov 11.

25.

Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo.

Echevarría L, Clemente P, Hernández-Sierra R, Gallardo ME, Fernández-Moreno MA, Garesse R.

Biochem J. 2014 May 15;460(1):91-101. doi: 10.1042/BJ20131107.

PMID:
24579914
26.

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. 2014 Jan 6;204(1):129-46. doi: 10.1083/jcb.201305084.

27.

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features.

Villar P, Bretón B, García-Pavía P, González-Páramos C, Blázquez A, Gómez-Bueno M, García-Silva T, García-Consuegra I, Martín MA, Garesse R, Bornstein B, Gallardo ME.

Circ J. 2013;77(11):2799-806. Epub 2013 Aug 20.

28.

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. 2013 Oct;1829(10):1136-46. doi: 10.1016/j.bbagrm.2013.07.006. Epub 2013 Jul 31.

29.

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. 2013 Jul;83(3):127-37. doi: 10.1002/arch.21101. Epub 2013 May 31.

30.

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. 2013 Mar 22;288(12):8321-31. doi: 10.1074/jbc.M112.422220. Epub 2013 Jan 29.

31.

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. 2013 Jun;95(6):1171-6. doi: 10.1016/j.biochi.2013.01.001. Epub 2013 Jan 22.

32.

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. 2012;7(8):e43954. doi: 10.1371/journal.pone.0043954. Epub 2012 Aug 28.

33.

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. 2012 Jul 13;287(29):24174-85. doi: 10.1074/jbc.M112.343764. Epub 2012 May 18.

34.

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. 2012 Jun;44(6):963-71. doi: 10.1016/j.biocel.2012.03.003. Epub 2012 Mar 12.

35.

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. 2012 Mar;12(2):357-62. doi: 10.1016/j.mito.2011.09.010. Epub 2011 Oct 1.

PMID:
21986556
36.

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. 2011 Nov;13(11):1193-201. doi: 10.1093/eurjhf/hfr110. Epub 2011 Sep 6.

37.

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. 2012 Feb;33(3):346-53. doi: 10.1093/eurheartj/ehr280. Epub 2011 Aug 6.

PMID:
21821846
38.

[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). 2010 Oct 2;135(10):452-5. doi: 10.1016/j.medcli.2010.03.031. Epub 2010 Jun 23. Spanish.

PMID:
20576279
39.

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. 2010 May 15;123(Pt 10):1674-83. doi: 10.1242/jcs.066076. Epub 2010 Apr 20.

40.

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. 2010 Jun;10(4):362-8. doi: 10.1016/j.mito.2010.03.003. Epub 2010 Mar 19.

PMID:
20227526
41.

Animal models of mitochondrial DNA transactions in disease and ageing.

Oliveira MT, Garesse R, Kaguni LS.

Exp Gerontol. 2010 Aug;45(7-8):489-502. doi: 10.1016/j.exger.2010.01.019. Epub 2010 Feb 1. Review.

42.

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. 2009 Mar 1;418(2):453-62. doi: 10.1042/BJ20081174.

PMID:
19032147
43.

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. 2008 Jun;8(3):273-8. doi: 10.1016/j.mito.2008.05.001. Epub 2008 May 21.

PMID:
18558519
44.

Functional analysis by inducible RNA interference in Drosophila melanogaster.

Matsushima Y, Adán C, Garesse R, Kaguni LS.

Methods Mol Biol. 2007;372:207-17. doi: 10.1007/978-1-59745-365-3_15.

45.

Drosophila melanogaster as a model system to study mitochondrial biology.

Fernández-Moreno MA, Farr CL, Kaguni LS, Garesse R.

Methods Mol Biol. 2007;372:33-49. doi: 10.1007/978-1-59745-365-3_3.

46.

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. 2008 May 2;283(18):12333-42. doi: 10.1074/jbc.M801342200. Epub 2008 Feb 28.

47.

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. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.

48.

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. 2008 Apr;105(1):165-76. Epub 2007 Nov 12.

49.

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. 2007 Oct;17(9-10):677-80. Epub 2007 Jul 5.

PMID:
17614277
50.

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. 2006 Sep-Oct;1757(9-10):1190-8. Epub 2006 May 13. Review.

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