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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.
Coenzyme Q10 deficiencies in neuromuscular diseases.
Artuch R, Salviati L, Jackson S, Hirano M, Navas P. Artuch R, et al. Among authors: jackson s. Adv Exp Med Biol. 2009;652:117-28. doi: 10.1007/978-90-481-2813-6_8. Adv Exp Med Biol. 2009. PMID: 20225022 Free PMC article. Review.
Myogenic tremor - a novel tremor entity.
Schaefer J, Saak A, Bönnemann CG, Jackson S. Schaefer J, et al. Among authors: jackson s. Curr Opin Neurol. 2021 Oct 1;34(5):706-713. doi: 10.1097/WCO.0000000000000976. Curr Opin Neurol. 2021. PMID: 34292195 Review.
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.
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.
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.
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.
4,684 results