Torres-Torronteras J - Search Results

1

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.

2

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.

3

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.

4

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Torres-Torronteras J, Cabrera-Pérez R, Barba I, Costa C, de Luna N, Andreu AL, Barquinero J, Hirano M, Cámara Y, Martí R. Torres-Torronteras J, et al. Hum Gene Ther. 2016 Sep;27(9):656-67. doi: 10.1089/hum.2015.160. Epub 2016 May 4. Hum Gene Ther. 2016. PMID: 27004974 Free PMC article.

5

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

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

6

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. 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.

7

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M, Martí R. Torres-Torronteras J, et al. Mol Ther. 2014 May;22(5):901-7. doi: 10.1038/mt.2014.6. Epub 2014 Jan 22. Mol Ther. 2014. PMID: 24448160 Free PMC article.

8

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.

Torres-Torronteras J, Cabrera-Pérez R, Vila-Julià F, Viscomi C, Cámara Y, Hirano M, Zeviani M, Martí R. Torres-Torronteras J, et al. Hum Gene Ther. 2018 Jun;29(6):708-718. doi: 10.1089/hum.2017.133. Epub 2018 Feb 26. Hum Gene Ther. 2018. PMID: 29284302 Free PMC article.

9

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. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. FASEB J. 2019. PMID: 30848931

10

Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Cabrera-Pérez R, Vila-Julià F, Hirano M, Mingozzi F, Torres-Torronteras J, Martí R. Cabrera-Pérez R, et al. Hum Gene Ther. 2019 Aug;30(8):985-998. doi: 10.1089/hum.2018.217. Epub 2019 Apr 24. Hum Gene Ther. 2019. PMID: 30900470 Free PMC article.

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