Martí R - Search Results

1

Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA.

Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Martí R. Cámara Y, et al. Among authors: marti r. Drug Discov Today. 2013 Oct;18(19-20):950-7. doi: 10.1016/j.drudis.2013.06.009. Epub 2013 Jun 28. Drug Discov Today. 2013. PMID: 23817075 Review.

2

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.

Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R. Lara MC, et al. Among authors: marti r. Biosci Rep. 2007 Jun;27(1-3):151-63. doi: 10.1007/s10540-007-9043-2. Biosci Rep. 2007. PMID: 17549623 Review.

3

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: marti r. 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

4

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

Martí R, Nascimento A, Colomer J, Lara MC, López-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P, Pineda M. Martí R, et al. Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/PDR.0b013e3181e33bbe. Pediatr Res. 2010. PMID: 20421844

5

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

Pinós T, Marotta M, Gallardo E, Illa I, Díaz-Manera J, Gonzalez-Vioque E, García-Arumí E, Andreu AL, Martí R. Pinós T, et al. Among authors: marti r. Mitochondrion. 2011 Jan;11(1):228-33. doi: 10.1016/j.mito.2010.08.008. Epub 2010 Sep 8. Mitochondrion. 2011. PMID: 20813205

6

Uridine metabolism in HIV-1-infected patients: effect of infection, of antiretroviral therapy and of HIV-1/ART-associated lipodystrophy syndrome.

Domingo P, Torres-Torronteras J, Pomar V, Giralt M, Domingo JC, Gutierrez Mdel M, Gallego-Escuredo JM, Mateo MG, Cano-Soldado P, Fernandez I, Pastor-Anglada M, Vidal F, Villarroya F, Andreu A, Marti R. Domingo P, et al. Among authors: marti r. PLoS One. 2010 Nov 15;5(11):e13896. doi: 10.1371/journal.pone.0013896. PLoS One. 2010. PMID: 21085568 Free PMC article.

7

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

Torres-Torronteras J, Gómez A, Eixarch H, Palenzuela L, Pizzorno G, Hirano M, Andreu AL, Barquinero J, Martí R. Torres-Torronteras J, et al. Among authors: marti r. Gene Ther. 2011 Aug;18(8):795-806. doi: 10.1038/gt.2011.24. Epub 2011 Mar 31. Gene Ther. 2011. PMID: 21451581 Free PMC article.

8

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R. González-Vioque E, et al. Among authors: marti r. PLoS Genet. 2011 Mar;7(3):e1002035. doi: 10.1371/journal.pgen.1002035. Epub 2011 Mar 31. PLoS Genet. 2011. PMID: 21483760 Free PMC article.

9

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Nogales-Gadea G, Pinós T, Lucia A, Arenas J, Camara Y, Brull A, de Luna N, Martín MA, Garcia-Arumí E, Martí R, Andreu AL. Nogales-Gadea G, et al. Among authors: marti r. Brain. 2012 Jul;135(Pt 7):2048-57. doi: 10.1093/brain/aws141. Epub 2012 Jun 21. Brain. 2012. PMID: 22730558

10

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Caballero A, Hirano M, Martí R. Cámara Y, et al. Among authors: marti r. Hum Mol Genet. 2014 May 1;23(9):2459-67. doi: 10.1093/hmg/ddt641. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24362886 Free PMC article.

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