González-Vioque E - 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. 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

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. Mitochondrion. 2011 Jan;11(1):228-33. doi: 10.1016/j.mito.2010.08.008. Epub 2010 Sep 8. Mitochondrion. 2011. PMID: 20813205

3

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. 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.

4

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. 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.

5

Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.

Molina-Granada D, González-Vioque E, Dibley MG, Cabrera-Pérez R, Vallbona-Garcia A, Torres-Torronteras J, Sazanov LA, Ryan MT, Cámara Y, Martí R. Molina-Granada D, et al. Among authors: gonzalez vioque e. Commun Biol. 2022 Jun 23;5(1):620. doi: 10.1038/s42003-022-03568-6. Commun Biol. 2022. PMID: 35739187 Free PMC article.

6

Spotlight on the relevance of mtDNA in cancer.

Cruz-Bermúdez A, Vicente-Blanco RJ, Gonzalez-Vioque E, Provencio M, Fernández-Moreno MÁ, Garesse R. Cruz-Bermúdez A, et al. Clin Transl Oncol. 2017 Apr;19(4):409-418. doi: 10.1007/s12094-016-1561-6. Epub 2016 Oct 24. Clin Transl Oncol. 2017. PMID: 27778302 Review.

7

Mitochondrial transcription factor B2 is essential for metabolic function in Drosophila melanogaster development.

Adán C, Matsushima Y, Hernández-Sierra R, Marco-Ferreres R, Fernández-Moreno MA, González-Vioque E, Calleja M, Aragón JJ, Kaguni LS, Garesse R. Adán C, et al. J Biol Chem. 2008 May 2;283(18):12333-42. doi: 10.1074/jbc.M801342200. Epub 2008 Feb 28. J Biol Chem. 2008. PMID: 18308726 Free PMC article.

8

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.

Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M. Martinez-Delgado B, et al. Am J Med Genet A. 2021 Mar;185(3):877-883. doi: 10.1002/ajmg.a.62017. Epub 2020 Dec 21. Am J Med Genet A. 2021. PMID: 33346930

9

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML. Barbosa-Gouveia S, et al. Among authors: gonzalez vioque e. Int J Mol Sci. 2021 Dec 15;22(24):13484. doi: 10.3390/ijms222413484. Int J Mol Sci. 2021. PMID: 34948281 Free PMC article.

10

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.

Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Álvarez JV, Chans R, Laranjeira F, Martins E, Ferreira AC, Avila-Alvarez A, Couce ML. Barbosa-Gouveia S, et al. Among authors: gonzalez vioque e. Genes (Basel). 2021 Aug 19;12(8):1262. doi: 10.3390/genes12081262. Genes (Basel). 2021. PMID: 34440436 Free PMC article.

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