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Pathophysiology of Mitochondrial Biogenesis

Publications

2022

Ortuno-Costela, MD, Cerrada, V, Moreno-Izquierdo, A, Garcia-Consuegra, I, Laberthonniere, C, Delourme, M, Garesse, R, Arenas, J, Garcia, CF, Garcia, GG, Millan, JM, Magdinier, F, Gallardo, ME (2022).

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 23(22).
[doi:10.3390/ijms232213964]
Bujan N, Morén C, García-García FJ, Blázquez A, Carnicer C, Cortés AB, González C, López-Gallardo E, Lozano E, Moliner S, Gort L, Tobías E, Delmiro A, Martin MÁ, Fernández-Moreno MÁ, Ruiz-Pesini E, Garcia-Arumí E, Rodríguez-Aguilera JC, Garrabou G (2022).

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.

Antioxidants. Article. 11(4).
[doi:10.3390/antiox11040741]

2021

Dalmao-Fernández A, Hermida-Gómez T, Lund J, Vazquez-Mosquera ME, Rego-Pérez I, Garesse R, Blanco FJ, Fernández-Moreno M (2021).

Mitochondrial DNA from osteoarthritic patients drives functional impairment of mitochondrial activity: a study on transmitochondrial cybrids.

CYTOTHERAPY. Article. 23(5):399-410.
[doi:10.1016/j.jcyt.2020.08.010]

2020

Valle, S, Alcala, S, Martin-Hijano, L, Cabezas-Sainz, P, Navarro, D, Muñoz ER, Yuste, L, Tiwary, K, Walter, K, Ruiz-Canas, L, Alonso-Nocelo, M, Rubiolo, JA, Gonzalez-Arnay, E, Heeschen, C, Garcia-Bermejo, L, Hermann, PC, Sanchez, L, Sancho, P, Fernandez-Moreno, MA, Sainz B Jr (2020).

Exploiting oxidative phosphorylation to promote the stem and immunoevasive properties of pancreatic cancer stem cells.

NATURE COMMUNICATIONS. Article. 11(1):5265-5265.
[doi:10.1038/s41467-020-18954-z]
Tiana, M, Acosta-Iborra, B, Hernandez, R, Galiana, C, Fernandez-Moreno, MA, Jimenez, B, Del Peso, L (2020).

Metabolic labeling of RNA uncovers the contribution of transcription and decay rates on hypoxia-induced changes in RNA levels.

RNA. Article. 26(8):1006-1022.
[doi:10.1261/rna.072611.119]
Mayoral-Varo, V, Calcabrini, A, Sanchez-Bailon, MP, Martinez-Costa, OH, Gonzalez-Paramos, C, Ciordia, S, Hardisson, D, Aragon, JJ, Fernandez-Moreno, MA, Martin-Perez, J (2020).

c-Src functionality controls self-renewal and glucose metabolism in MCF7 breast cancer stem cells.

PLOS ONE. Article. 15(7).
[doi:10.1371/journal.pone.0235850]
Alcala, S, Sancho, P, Martinelli, P, Navarro, D, Pedrero, C, Martin-Hijano, L, Valle, S, Earl, J, Rodriguez-Serrano, M, Ruiz-Canas, L, Rojas, K, Carrato, A, Garcia-Bermejo, L, Fernandez-Moreno, MA, Hermann, PC, Sainz B Jr (2020).

ISG15 and ISGylation is required for pancreatic cancer stem cell mitophagy and metabolic plasticity.

NATURE COMMUNICATIONS. Article. 11(1):2682-2682.
[doi:10.1038/s41467-020-16395-2]
Galera-Monge, T, Zurita-Diaz, F, Canals, I, Hansen, MG, Rufian-Vazquez, L, Ehinger, JK, Elmer, E, Martin, MA, Garesse, R, Ahlenius, H, Gallardo, ME (2020).

Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Article. 21(9).
[doi:10.3390/ijms21093191]
Cruz-Bermúdez A, Vallejo CG, Vicente-Blanco RJ, Gallardo ME, Fernández-Moreno MÁ, Quintanilla M, Garesse R (2020).

Correction: Enhanced tumorigenicity by mitochondrial DNA mild mutations.

Oncotarget. Article. 11(11):1006-1006.
[doi:10.18632/oncotarget.27522]

2019

Galera-Monge, T, Zurita-Diaz, F, Garesse, R, Gallardo, ME (2019).

The mutation m.13513G > A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way

JOURNAL OF CELLULAR PHYSIOLOGY. Article. 234(11):19511-19522.
[doi:10.1002/jcp.28549]
Ortuno-Costela MDC, Garcia-Lopez, M, Cerrada, V, Gallardo, ME (2019).

iPSCs: A powerful tool for skeletal muscle tissue engineering.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE. Review. 23(6):3784-3794.
[doi:10.1111/jcmm.14292]
Ortuno-Costela MDC, Cerrada, V, Garcia-Lopez, M, Arenas, J, Martinez, J, Lucia, A, Garesse, R, Gallardo, ME (2019).

Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A.

STEM CELL RESEARCH. Article. 36:101418-101418.
[doi:10.1016/j.scr.2019.101418]

2018

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, Gonzalez, 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, Fernandez-Moreno, MA, Baris, HN, Donnini, C, Minczuk, M, Rodenburg, RJ, Van Hove JLK (2018).

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

NATURE COMMUNICATIONS. Article. 9(1):4065-4065.
[doi:10.1038/s41467-018-06250-w]
Zurita-Diaz F, Ortuno-Costela MDC, Moreno-Izquierdo A, Galbis L, Millan JM, Ayuso C, Garesse R, Gallardo ME (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

STEM CELL RESEARCH. Editorial Material. 31:152-156.
[doi:10.1016/j.scr.2018.08.002]
Richard E, Brasil S, Briso-Montiano A, Alonso-Barroso E, Gallardo ME, Merinero B, Ugarte M, Desviat LR, Perez B (2018).

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type

STEM CELL RESEARCH. Editorial Material. 29:143-147.
[doi:10.1016/j.scr.2018.03.021]
Ortuno-Costela MDC, Moreno-Izquierdo A, Garesse R, Gallardo ME (2018).

Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup

STEM CELL RESEARCH. Editorial Material. 28:131-135.
[doi:10.1016/j.scr.2018.02.009]
Friederich, MW, Timal, S, Powell, C, Dallabona, C, Kurolap, A, Palacios-Zambrano, S, Bratkovic, D, Derks, T, Fernandez-Moreno, MA, Baris, HN, Donnini, C, Minczuk, M, Rodenburg, RJ, Van Hove, JLK (2018).

MUTATIONS IN THE GENES QRSL1, GATB, AND GATC ENCODING THE SUBUNITS OF GLUTAMYL-TRNA(GLN) AMIDOTRANSFERASE CAUSE A MITOCHONDRIAL DISORDER WITH LETHAL INFANTILE CARDIOMYOPATHY

MOLECULAR GENETICS AND METABOLISM. Meeting Abstract. 123(3):206-207.

2017

Zurita-Díaz F, Galera-Monge T, Moreno-Izquierdo A, Corton M, Ayuso C, Garesse R, Gallardo ME (2017).

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the; mutation in the OPA1 gene: c.1635C> A; p.Ser545Arg

STEM CELL RESEARCH. Editorial Material. 24:81-84.
[doi:10.1016/j.scr.2017.08.017]
Ortuno-Costela, MD, Rodriguez-Mancera, N, Garcia-Lopez, M, Zurita-Diaz, F, Moreno-Izquierdo, A, Lucia, A, Martin, MA, Garesse, R, Gallardo, ME (2017).

Establishment of a human iPSC line (IISHDOi001-A) from a patient with; McArdle disease

STEM CELL RESEARCH. Editorial Material. 23:188-192.
[doi:10.1016/j.scr.2017.07.020]
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 (2017).

Mitochondrial DNA haplogroups influence the risk of incident knee; osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional; study

ANNALS OF THE RHEUMATIC DISEASES. Article. 76(6):1114-1122.
[doi:10.1136/annrheumdis-2016-210131]
Cruz-Bermúdez A, Vicente-Blanco RJ, Gonzalez-Vioque E, Provencio M, Fernández-Moreno MÁ, Garesse R (2017).

Spotlight on the relevance of mtDNA in cancer

CLINICAL & TRANSLATIONAL ONCOLOGY. Review. 19(4):409-418.
[doi:10.1007/s12094-016-1561-6]

2016

Neira, Jose L., Martinez-Rodrituez, Sergio, Hernandez-Cifre, Jose G., Camara-Artigas, Ana, Clemente, Paula, Peralta, Susana, Angel Fernandez-Moreno, Miguel, Garesse, Rafael, Garcia de la Torre, Jose, Rizzuti, Bruno (2016).

Human COA3 Is an Oligomeric Highly Flexible Protein in Solution

BIOCHEMISTRY. Article. 55(45):6209-6220.
[doi:10.1021/acs.biochem.6b00644]
Galera T, Zurita-Díaz F, Garesse R, Gallardo ME (2016).

iPSCs, a Future Tool for Therapeutic Intervention in Mitochondrial Disorders: Pros and Cons

JOURNAL OF CELLULAR PHYSIOLOGY. Article. 231(11):2317-2318.
[doi:10.1002/jcp.25386]
Sanchis-Gomar F, Galera T, Lucia A, Gallardo ME (2016).

Reprogramming for Cardiac Regeneration-Strategies for Innovation

JOURNAL OF CELLULAR PHYSIOLOGY. Article. 231(9):1849-1851.
[doi:10.1002/jcp.25311]
Pareja-Galeano, Helios, Sanchis-Gomar, Fabian, Perez, Laura M., Emanuele, Enzo, Lucia, Alejandro, Galvez, Beatriz G., Esther Gallardo, Maria (2016).

iPSCs-based anti-aging therapies: Recent discoveries and future challenges

AGEING RESEARCH REVIEWS. Review. 27:37-41.
[doi:10.1016/j.arr.2016.02.007]
Galera-Monge T, Zurita-Díaz F, González-Páramos C, Moreno-Izquierdo A, Fraga MF, Fernández AF, Garesse R, Gallardo ME (2016).

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene.

STEM CELL RESEARCH. Editorial Material. 16(3):766-769.
[doi:10.1016/j.scr.2016.04.012]
Galera-Monge T, Zurita-Díaz F, Moreno-Izquierdo A, Fraga MF, Fernández AF, Ayuso C, Garesse R, Gallardo ME (2016).

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 RESEARCH. Editorial Material. 16(3):673-676.
[doi:10.1016/j.scr.2016.03.011]
Fernandez-Moreno, Sr., M., Hermida-Gomez, T., Dalmao-Fernandez, A., Rego-Perez, I., Vazquez-Mosquera, M., Cortes-Pereira, E., Relano, S., Oreiro-Villar, N., Fernandez-Lopez, C., Gallardo-Perez, E., Delmiro, A., Martin, M., Garesse, R., Blanco, F. (2016).

IN VITRO STUDIES HELP US TO INDERSTAND THE RELATIONSHIP BETWEEN MITOCHONDRIAL DNA (MTDNA) HAPLOGROUPS AND OA PATHOGENESIS

OSTEOARTHRITIS AND CARTILAGE. Meeting Abstract. 24(S):143-144.
[doi:10.1016/j.joca.2016.01.280]
Pareja-Galeano H, Sanchis-Gomar F, Emanuele E, Gallardo ME, Lucia A (2016).

IPSCs, a Promising Tool to Restore Muscle Atrophy

JOURNAL OF CELLULAR PHYSIOLOGY. Article. 231(2):259-260.
[doi:10.1002/jcp.25114]
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 (2016).

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

PLOS ONE. Article. 11(1).
[doi:10.1371/journal.pone.0146816]
Zurita-Diaz, Francisco, Galera-Monge, Teresa, Moreno-Izquierdo A, Fraga, Mario F., Ayuso, C., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

STEM CELL RESEARCH. Editorial Material. 16(1):124-127.
[doi:10.1016/j.scr.2015.12.019]
Galera, Teresa, Zurita, Francisco, Gonzalez-Paramos, Cristina, Moreno-Izquierdo A, Fraga, Mario F., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human control iPSC line with a European mitochondrial haplogroup U background

STEM CELL RESEARCH. Editorial Material. 16(1):88-91.
[doi:10.1016/j.scr.2015.12.010]
Zurita, Francisco, Galera, Teresa, Gonzalez-Paramos, Cristina, Moreno-Izquierdo A, Schneiderat, Peter, Fraga, Mario F., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human iPSC line from a patient with a defect of intergenomic communication

STEM CELL RESEARCH. Editorial Material. 16(1):120-123.
[doi:10.1016/j.scr.2015.12.016]
Galera, Teresa, Zurita, Francisco, Gonzalez-Paramos, Cristina, Moreno-Izquierdo A, Fraga, Mario F., Fernandez, Agustin F., Garesse, Rafael, Esther Gallardo, M. (2016).

Generation of a human iPSC line from a patient with Leigh syndrome

STEM CELL RESEARCH. Editorial Material. 16(1):63-66.
[doi:10.1016/j.scr.2015.12.005]

2015

Martinez-Morentin, Leticia, Martinez, Lidia, Piloto, Sarah, Yang, Hua, Schon, Eric A., Garesse, Rafael, Bodmer, Rolf, Ocorr, Karen, Cervera, Margarita, Arredondo, Juan J. (2015).

Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model

HUMAN MOLECULAR GENETICS. Article. 24(13):3608-3622.
[doi:10.1093/hmg/ddv106]
Cruz-Bermudez, Alberto, Vallejo, Carmen G., Vicente-Blanco, Ramiro J., Gallardo, Maria Esther, Fernandez-Moreno, Miguel Angel, Quintanilla, Miguel, Garesse, Rafael (2015).

Enhanced tumorigenicity by mitochondrial DNA mild mutations

Oncotarget. Article. 6(15):13628-13643.
[doi:10.18632/oncotarget.3698]

2014

Echevarría L, Clemente P, Hernández Sierra R, Gallardo ME, Fernández-Moreno MA, Garesse R (2014).

Glutamyl-tRNA(Gln) amidotransferase is essential for mammalian. mitochondrial translation in vivo

BIOCHEMICAL JOURNAL. Article. 460(1):91-101.
[doi:10.1042/BJ20131107]
González-Vioque E, Bornstein B, Gallardo ME, Fernández-Moreno MÁ, Garesse R (2014).

The pathogenicity scoring system for mitochondrial tRNA mutations revisited.

Molecular genetics & genomic medicine. Article. 2(2):107-114.
[doi:10.1002/mgg3.47]
Zambrano, Alberto, Garcia-Carpizo, Veronica, Esther Gallardo, Maria, Villamuera, Raquel, Ana Gomez-Ferreria, Maria, Pascual, Angel, Buisine, Nicolas, Sachs, Laurent M., Garesse, Rafael, Aranda, Ana (2014).

The thyroid hormone receptor beta induces DNA damage and premature senescence

JOURNAL OF CELL BIOLOGY. Article. 204(1):129-146.
[doi:10.1083/jcb.201305084]
Zabalza R, Nurminen A, Kaguni LS, Garesse R, Gallardo ME, Bornstein B (2014).

Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.

BMC research notes. Article. 7:883-883.
[doi:10.1186/1756-0500-7-883]

2013

Villar, Pedro, Breton, Begona, Garcia-Pavia, Pablo, Gonzalez-Paramos, Cristina, Blazquez, Alberto, Gomez-Bueno, Manuel, Garcia-Silva, Teresa, Garcia-Consuegra, Ines, Angel Martin, Miguel, Garesse, Rafael, Bornstein, Belen, Esther Gallardo, M. (2013).

Cardiac Dysfunction in Mitochondrial Disease - Clinical and Molecular Features

CIRCULATION JOURNAL. Article. 77(11):2799-2806.
[doi:10.1253/circj.CJ-13-0557]
Fernández-Moreno MA (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

BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS. Article. 1829(10):1136-1146.
[doi:10.1016/j.bbagrm.2013.07.006]
Garcia-Donas, J., Leandro-Garcia, L. J., del Alba, A. Gonzlez, Morente, M., Alemany, I., Esteban, E., Arranz, J. A., Climent, M. A., Gallardo, E., Castellano, D. E., Bellmunt, J., Mellado, B., Puente, J., Moreno, F., Font, A., Hernando, S., Robledo, M., Rodriguez-Antona, C. (2013).

Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma

ANNALS OF ONCOLOGY. Article. 24(9):2409-2414.
[doi:10.1093/annonc/mdt219]
Martínez-Azorín F, Calleja M, Hernández-Sierra R, Farr CL, Kaguni LS, Garesse R (2013).

MUSCLE-SPECIFIC OVEREXPRESSION OF THE CATALYTIC SUBUNIT OF DNA POLYMERASE gamma INDUCES PUPAL LETHALITY IN Drosophila melanogaster

ARCHIVES OF INSECT BIOCHEMISTRY AND PHYSIOLOGY. Article. 83(3):127-137.
[doi:10.1002/arch.21101]
Vallejo CG, Cruz-Bermúdez A, Clemente P, Hernández-Sierra R, Garesse R, Quintanilla M (2013).

Evaluation of mitochondrial function and metabolic reprogramming during tumor Progression in a cell model of skin carcinogenesis

Biochimie. Article. 95(6):1171-1176.
[doi:10.1016/j.biochi.2013.01.001]
Clemente, Paula, Peralta, Susana, Cruz-Bermudez, Alberto, Echevarria, Lucia, Fontanesi, Flavia, Barrientos, Antoni, Fernandez-Moreno, Miguel A., Garesse, Rafael (2013).

hCOA3 Stabilizes Cytochrome c Oxidase 1 (COX1) and Promotes Cytochrome c Oxidase Assembly in Human Mitochondria

JOURNAL OF BIOLOGICAL CHEMISTRY. Article. 288(12):8321-8331.
[doi:10.1074/jbc.M112.422220]

2012

Sanchez-Martinez, Alvaro, Calleja, Manuel, Peralta, Susana, Matsushima, Yuichi, Hernandez-Sierra, Rosana, Whitworth, Alexander J., Kaguni, Laurie S., Garesse, Rafael (2012).

Modeling Pathogenic Mutations of Human Twinkle in Drosophila Suggests an Apoptosis Role in Response to Mitochondrial Defects

PLOS ONE. Article. 7(8).
[doi:10.1371/journal.pone.0043954]
Peralta, Susana, Clemente, Paula, Sanchez-Martinez, Alvaro, Calleja, Manuel, Hernandez-Sierra, Rosana, Matsushima, Yuichi, Adan, Cristina, Ugalde, Cristina, Angel Fernandez-Moreno, Miguel, Kaguni, Laurie S., Garesse, Rafael (2012).

Coiled Coil Domain-containing Protein 56 (CCDC56) Is a Novel Mitochondrial Protein Essential for Cytochrome c Oxidase Function

JOURNAL OF BIOLOGICAL CHEMISTRY. Article. 287(29):24174-24185.
[doi:10.1074/jbc.M112.343764]
Gonzalez-Ramos, Marta, Mora, Ines, de Frutos, Sergio, Garesse, Rafael, Rodriguez-Puyol, Manuel, Olmos, Gemma, Rodriguez-Puyol, Diego (2012).

Intracellular redox equilibrium is essential for the constitutive expression of AP-1 dependent genes in resting cells: Studies on TGF-beta 1 regulation

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY. Article. 44(6):963-971.
[doi:10.1016/j.biocel.2012.03.003]
Arredondo, Juan J., Esther Gallardo, M., Garcia-Pavia, Pablo, Domingo, Veronica, Breton, Begona, Teresa Garcia-Silva, M., Jesus Sedano, M., Martin, Miguel A., Arenas, Joaquin, Cervera, Margarita, Garesse, Rafael, Bornstein, Belen (2012).

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

MITOCHONDRION. Article. 12(2):357-362.
[doi:10.1016/j.mito.2011.09.010]
Gallardo, M. Esther, Garcia-Pavia, Pablo, Chamorro, Raquel, Vazquez, Maria E., Gomez-Bueno, Manuel, Millan, Isabel, Almoguera, Berta, Domingo, Veronica, Segovia, Javier, Vilches, Carlos, Alonso-Pulpon, Luis, Garesse, Rafael, Bornstein, Belen (2012).

Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients

EUROPEAN HEART JOURNAL. Article. 33(3):346-353.
[doi:10.1093/eurheartj/ehr280]

2011

Garcia-Pavia, Pablo, Vazquez, Maria E., Segovia, Javier, Salas, Clara, Avellana, Patricia, Gomez-Bueno, Manuel, Vilches, Carlos, Esther Gallardo, M., Garesse, Rafael, Molano, Jesus, Bornstein, Belen, Alonso-Pulpon, Luis (2011).

Genetic basis of end-stage hypertrophic cardiomyopathy

EUROPEAN JOURNAL OF HEART FAILURE. Article. 13(11):1193-1201.
[doi:10.1093/eurjhf/hfr110]
Garcia-Pavia, Pablo, Syrris, Petros, Salas, Clara, Evans, Alison, Mirelis, Jesus G., Cobo-Marcos, Marta, Vilches, Carlos, Bornstein, Belen, Segovia, Javier, Alonso-Pulpon, Luis, Elliott, Perry M. (2011).

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

HEART. Article. 97(21):1744-1752.
[doi:10.1136/hrt.2011.227967]
Garcia-Pavia, Pablo, Avellana, Patricia, Bornstein, Belen, Heine-Suner, Damian, Cobo-Marcos, Marta, Gomez-Bueno, Manuel, Segovia, Javier, Alonso-Pulpon, Luis A. (2011).

Familial Approach in Hereditary Transthyretin Cardiac Amyloidosis

REVISTA ESPANOLA DE CARDIOLOGIA. Editorial Material. 64(6):523-526.
[doi:10.1016/j.rec.2010.12.005]
Posada, I. J., Gallardo, M. E., Dominguez, C., Rivera, H., Cabello, A., Arenas, J., Martin, M. A., Garesse, R., Borstein, B. (2011).

I-123-FP-CIT SPECT alteration without parkinsonism in SANDO phenotype due to POLG mutations

MOVEMENT DISORDERS. Meeting Abstract. 26(2):344-344.
Moreno-Loshuertos, Raquel, Ferrin, Gustavo, Acin-Perez, Rebeca, Esther Gallardo, M., Viscomi, Carlo, Perez-Martos, Acisclo, Zeviani, Massimo, Fernandez-Silva, Patricio, Antonio Enriquez, Jose (2011).

Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

PLOS GENETICS. Article. 7(4).
[doi:10.1371/journal.pgen.1001379]
Garcia-Pavia, P., Segovia, J., Vazquez, M. E., Salas, C., Avellana, P., Gomez-Bueno, M., Gallardo, E., Garcia-Cosio Carmena, M. D., Cobo-Marcos, M., Vilches, C., Garesse, R., Molano, J., Bornstein, B., Alonso Pulpon, L. A. (2011).

Genetic Basis of Heart Transplanted Hypertrophic Cardiomyopathy

JOURNAL OF HEART AND LUNG TRANSPLANTATION. Meeting Abstract. 30(4, S):135-135.
[doi:10.1016/j.healun.2011.01.400]

2010

Posada, Ignacio J., Esther Gallardo, Maria, Dominguez, Cristina, Rivera, Henry, Cabello, Ana, Arenas, Joaquin, Martin, Miguel A., Garesse, Rafael, Bornstein, Belen (2010).

Mitochondrial DNA depletion and polg mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia

MEDICINA CLINICA. Article. 135(10):452-455.
[doi:10.1016/j.medcli.2010.03.031]
Oliveira, Marcos T., Garesse, Rafael, Kaguni, Laurie S. (2010).

Animal models of mitochondrial DNA transactions in disease and ageing

EXPERIMENTAL GERONTOLOGY. Article. 45(7-8, SI):489-502.
[doi:10.1016/j.exger.2010.01.019]
Rivera, Henry, Merinero, Begona, Martinez-Pardo, Mercedes, Arroyo, Ignacio, Ruiz-Sala, Pedro, Bornstein, Belen, Serra-Suhe, Clara, Gallardo, Esther, Marti, Ramon, Moran, Maria J., Ugalde, Cristina, Perez-Jurado, Luis A., Andreu, Antoni L., Garesse, Rafael, Ugarte, Magdalena, Arenas, Joaquin, Martin, Miguel A. (2010).

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch

MITOCHONDRION. Article. 10(4):362-368.
[doi:10.1016/j.mito.2010.03.003]
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