Torres-Torronteras J - Search Results

1

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: torres torronteras j. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. 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. Biosci Rep. 2007 Jun;27(1-3):151-63. doi: 10.1007/s10540-007-9043-2. Biosci Rep. 2007. PMID: 17549623 Review.

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

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.

5

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.

6

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.

7

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.

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

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.

10

Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides.

Vila-Julià F, Cabrera-Pérez R, Cámara Y, Molina-Berenguer M, Lope-Piedrafita S, Hirano M, Mingozzi F, Torres-Torronteras J, Martí R. Vila-Julià F, et al. Among authors: torres torronteras j. EBioMedicine. 2020 Dec;62:103133. doi: 10.1016/j.ebiom.2020.103133. Epub 2020 Nov 21. EBioMedicine. 2020. PMID: 33232869 Free PMC article.

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