Sobre el grupo
Investigador Principal
Eduardo Ruiz Pesini
Equipo
Alejandro Del Rio García, Ana Vela Sebastián, David Pacheu Grau, Elena De Tomás Mateo, Ester López Gallardo, Irene Jiménez Salvador, Javier Amezcua Gil, José Lorenzo Labarta Monzón, Julio Montoya Villarroya, Laura Gallego Ramírez, Laura Llobet Sesé, M Pilar Bayona Bafaluy, Nuria Garrido Pérez, Patricia Meade Huerta, Sonia Emperador Ortiz
ARAID
Universidad de Zaragoza
Líneas de Investigación
Caracterización de variantes genéticas poblacionales que provocan susceptibilidad a las enfermedades mitocondriales
Diagnóstico genético-molecular de enfermedades mitocondriales humanas
Farmacogenómica mitocondrial
Variabilidad genética mitocondrial y ejercicio físico
Variación genética poblacional en el mtDNA y su relación con la presbiacusia y la ototoxicidad
Publicaciones más relevantes
Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar J, Garcia-Cazorla A, Artuch R. Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. J Inherit Metab Dis. 2018. 41(6): 1147 - 1158. 10.1007/s10545-018-0224-x.
Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol S, Spencer E, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor R, Montoya J, Rehling P. Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. Hum. Mol. Genet.. 2018. 27(23): 4135 - 4144. 10.1093/hmg/ddy305.
Lorente L, Martin M, Lopez-Gallardo E, Ferreres J, Sole-Violan J, Labarta L, Diaz C, Jimenez A, Montoya J, Ruiz-Pesini E. Lower mitochondrial dysfunction in survivor septic patients with mitochondrial DNA haplogroup JT. Enferm. Infec. Microbiol. Clin.. 2018. 36(9): 539 - 543. 10.1016/j.eimc.2017.08.011.
Lopez-Gallardo E, Emperador S, Hernandez-Ainsa C, Montoya J, Bayona-Bafaluy M, Ruiz-Pesini E. Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations. Food Chem Toxicol. 2018. 120: 89 - 97. 10.1016/j.fct.2018.07.014.
Michelena C, del Buey M, Ascaso F, Cristobal J. Keratitis Due to Achromobacter xylosoxidans in a Contact Lens User. Eye Contact Lens. 2018. 44: 348 - 351. 10.1097/ICL.0000000000000370.
Perez-Trullen J, Ascaso F, Auria M. Did poor eyesight influence Goya's late works? Medicine and art history in search for an interpretation of Goya's late paintings. Acta Ophthalmol.. 2018. 96(6): 652 - 654. 10.1111/aos.13730.
Garone C, Taylor R, Nascimento A, Poulton J, Fratter C, Dominguez-Gonzalez C, Evans J, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes M, McFarland R, Barca E, Gomez C, Jayawant S, Thomas N, Manzur A, Kleinsteuber K, Martin M, Kerr T, Gorman G, Sommerville E, Chinnery P, Hofer M, Karch C, Ralph J, Camara Y, Madruga-Garrido M, Dominguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger J, Schoenaker R, Levin B, Thompson J, Long Y, Rahman S, Donati M, DiMauro S, Hirano M. Retrospective natural history of thymidine kinase 2 deficiency. J. Med. Genet.. 2018. 55(8): 515 - 521. 10.1136/jmedgenet-2017-105012.
Diaz-Morales N, Lopez-Domenech S, Iannantuoni F, Lopez-Gallardo E, Sola E, Morillas C, Rocha M, Ruiz-Pesini E, Victor V. Mitochondrial DNA Haplogroup JT is Related to Impaired Glycaemic Control and Renal Function in Type 2 Diabetic Patients. J. Clin. Med.. 2018. 7(8): 220. 10.3390/jcm7080220.
Iglesias E, Pesini A, Garrido-Perez N, Meade P, Bayona-Bafaluy M, Montoya J, Ruiz-Pesini E. Prenatal exposure to oxidative phosphorylation xenobiotics and late-onset Parkinson disease. Ageing Res. Rev.. 2018. 45: 24 - 32. 10.1016/j.arr.2018.04.006.
Cortes-Saladelafont E, Molero-Luis M, Cuadras D, Casado M, Armstrong-Moron J, Yubero D, Montoya J, Artuch R, Garcia-Cazorla A, Inst Recerca Sant Joan Working Grp. Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders. Dev. Med. Child Neurol.. 2018. 60(8). 10.1111/dmcn.13746.
Esteban O, Mateo J, Peiro C, Del Buey M, Ascaso F. Fundus autofluorescence: the key in the diagnosis of maternally inherited diabetes and deafness. Clin. Exp. Optom.. 2018. 101(4): 604 - 606. 10.1111/cxo.12549.
Casas P, Ascaso F, Vicente E, Tejero-Garces G, Adiego M, Cristobal J. Visual field defects and retinal nerve fiber imaging in patients with obstructive sleep apnea syndrome and in healthy controls. BMC Ophthalmol.. 2018. 18: 66. 10.1186/s12886-018-0728-z.
Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Hernandez-Ainsal C, Montoya J. Increasing mtDNA levels as therapy for mitochondrial optic neuropathies. Drug Discov. Today. 2018. 23(3): 493 - 498. 10.1016/j.drudis.2018.01.031.
Emperador S, Vidal M, Hernandez-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch R, Lopez-Gallardo E, Bayona-Bafaluy M, Montoya J, Ruiz-Pesini E. The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient. Front. Neurosci.. 2018. 12: 61. 10.3389/fnins.2018.00061.