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Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y. Blázquez-Bermejo C, et al. Among authors: martin ma. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. FASEB J. 2019. PMID: 30848931
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.
Martín MA, Blázquez A, Martí R, Bautista J, Lara MC, Cabello A, Campos Y, Belda O, Andreu AL, Arenas J. Martín MA, et al. Neurology. 2004 Oct 26;63(8):1536-7. doi: 10.1212/01.wnl.0000141857.37073.97. Neurology. 2004. PMID: 15505189 No abstract available.
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
Montero R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, García-Cazorla A, Montoya J, Navas P, Artuch R. Montero R, et al. Among authors: martin ma. Clin Biochem. 2009 May;42(7-8):742-5. doi: 10.1016/j.clinbiochem.2008.10.027. Epub 2008 Dec 3. Clin Biochem. 2009. PMID: 19094978
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.
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
Rivera H, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P, Bornstein B, Serra-Suhe C, Gallardo E, Marti R, Moran MJ, Ugalde C, Perez-Jurado LA, Andreu AL, Garesse R, Ugarte M, Arenas J, Martin MA. Rivera H, et al. Among authors: martin ma. Mitochondrion. 2010 Jun;10(4):362-8. doi: 10.1016/j.mito.2010.03.003. Epub 2010 Mar 19. Mitochondrion. 2010. PMID: 20227526
A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.
Nogales-Gadea G, Consuegra-García I, Rubio JC, Arenas J, Cuadros M, Camara Y, Torres-Torronteras J, Fiuza-Luces C, Lucia A, Martín MA, García-Arumí E, Andreu AL. Nogales-Gadea G, et al. Among authors: martin ma. PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9. PLoS One. 2012. PMID: 22347505 Free PMC article.
1,151 results