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Mitochondrial disorders due to nuclear OXPHOS gene defects.
Ugalde C, Morán M, Blázquez A, Arenas J, Martín MA. Ugalde C, et al. Among authors: martin ma. Adv Exp Med Biol. 2009;652:85-116. doi: 10.1007/978-90-481-2813-6_7. Adv Exp Med Biol. 2009. PMID: 20225021 Review.
Impact of the mitochondrial genetic background in complex III deficiency.
Gil Borlado MC, Moreno Lastres D, Gonzalez Hoyuela M, Moran M, Blazquez A, Pello R, Marin Buera L, Gabaldon T, Garcia Peñas JJ, Martín MA, Arenas J, Ugalde C. Gil Borlado MC, et al. Among authors: martin ma. PLoS One. 2010 Sep 17;5(9):e12801. doi: 10.1371/journal.pone.0012801. PLoS One. 2010. PMID: 20862300 Free PMC article.
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Garcia-Consuegra I, Blázquez A, Rubio JC, Arenas J, Ballester-Lopez A, González-Quintana A, Andreu AL, Pinós T, Coll-Cantí J, Lucia A, Nogales-Gadea G, Martín MA. Garcia-Consuegra I, et al. Among authors: martin ma. Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913921 Free article.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Among authors: martin e, martin ma. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.
Pérez-Pérez R, Lobo-Jarne T, Milenkovic D, Mourier A, Bratic A, García-Bartolomé A, Fernández-Vizarra E, Cadenas S, Delmiro A, García-Consuegra I, Arenas J, Martín MA, Larsson NG, Ugalde C. Pérez-Pérez R, et al. Among authors: martin ma. Cell Rep. 2016 Aug 30;16(9):2387-98. doi: 10.1016/j.celrep.2016.07.081. Epub 2016 Aug 18. Cell Rep. 2016. PMID: 27545886 Free PMC article.
Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.
García-Bartolomé A, Peñas A, Marín-Buera L, Lobo-Jarne T, Pérez-Pérez R, Morán M, Arenas J, Martín MA, Ugalde C. García-Bartolomé A, et al. Among authors: martin ma. Hum Mol Genet. 2017 Jul 1;26(13):2493-2506. doi: 10.1093/hmg/ddx144. Hum Mol Genet. 2017. PMID: 28431142 Free PMC article.
1,187 results