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Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming.
Villanueva-Paz M, Povea-Cabello S, Villalón-García I, Suárez-Rivero JM, Álvarez-Córdoba M, de la Mata M, Talaverón-Rey M, Jackson S, Sánchez-Alcázar JA. Villanueva-Paz M, et al. Among authors: jackson s. Biochim Biophys Acta Mol Cell Res. 2019 May;1866(5):861-881. doi: 10.1016/j.bbamcr.2019.02.010. Epub 2019 Feb 22. Biochim Biophys Acta Mol Cell Res. 2019. PMID: 30797798 Free article.
Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.
De la Mata M, Garrido-Maraver J, Cotán D, Cordero MD, Oropesa-Ávila M, Izquierdo LG, De Miguel M, Lorite JB, Infante ER, Ybot P, Jackson S, Sánchez-Alcázar JA. De la Mata M, et al. Among authors: jackson s. Neurotherapeutics. 2012 Apr;9(2):446-63. doi: 10.1007/s13311-012-0103-3. Neurotherapeutics. 2012. PMID: 22354625 Free PMC article.
Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome.
Villanueva-Paz M, Povea-Cabello S, Villalón-García I, Álvarez-Córdoba M, Suárez-Rivero JM, Talaverón-Rey M, Jackson S, Falcón-Moya R, Rodríguez-Moreno A, Sánchez-Alcázar JA. Villanueva-Paz M, et al. Among authors: jackson s. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165726. doi: 10.1016/j.bbadis.2020.165726. Epub 2020 Feb 13. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32061767 Free article.
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease.
Garrido-Maraver J, Cordero MD, Moñino ID, Pereira-Arenas S, Lechuga-Vieco AV, Cotán D, De la Mata M, Oropesa-Ávila M, De Miguel M, Bautista Lorite J, Rivas Infante E, Alvarez-Dolado M, Navas P, Jackson S, Francisci S, Sánchez-Alcázar JA. Garrido-Maraver J, et al. Among authors: jackson s. Br J Pharmacol. 2012 Nov;167(6):1311-28. doi: 10.1111/j.1476-5381.2012.02086.x. Br J Pharmacol. 2012. PMID: 22747838 Free PMC article.
Critical role of AMP-activated protein kinase in the balance between mitophagy and mitochondrial biogenesis in MELAS disease.
Garrido-Maraver J, Paz MV, Cordero MD, Bautista-Lorite J, Oropesa-Ávila M, de la Mata M, Pavón AD, de Lavera I, Alcocer-Gómez E, Galán F, Ybot González P, Cotán D, Jackson S, Sánchez-Alcázar JA. Garrido-Maraver J, et al. Among authors: jackson s. Biochim Biophys Acta. 2015 Nov;1852(11):2535-53. doi: 10.1016/j.bbadis.2015.08.027. Epub 2015 Sep 2. Biochim Biophys Acta. 2015. PMID: 26341273 Free article. No abstract available.
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H. Schmiedel J, et al. Among authors: jackson s. J Neurol. 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. J Neurol. 2003. PMID: 12638015 Review.
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. Altmann J, et al. Among authors: jackson s. J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19. J Neurol. 2016. PMID: 26995359
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.
Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou C, Casado M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch R, Cabo R, Jackson S, Navas P. Vázquez-Fonseca L, et al. Among authors: jackson s. J Clin Med. 2019 Sep 2;8(9):1374. doi: 10.3390/jcm8091374. J Clin Med. 2019. PMID: 31480808 Free PMC article.
4,706 results