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Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
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“The ApoE/hAAT promoter is known for its strong and liver-specific expression, which has been demonstrated in previous studies to provide effective gene regulation specifically within hepatocytes56,57,104.”
From ABCC4 impairs the clearance of plasma LDL cholesterol through suppressing LDLR expression in the liver (2025) · cites this paper as [104]
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“The ApoE/hAAT promoter is known for its strong and liver-specific expression, which has been demonstrated in previous studies to provide effective gene regulation specifically within hepatocytes56,57,104.”
From ABCC4 impairs the clearance of plasma LDL cholesterol through suppressing LDLR expression in the liver (2025) · cites this paper as [104]
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Citations
Cites
Long-Term Safety and Efficacy of Factor IX Gene Therapy in Hemophilia B
Nathwani, A. C., Reiss, U. M., Tuddenham, E. G. D., Rosales, C., Chowdary, P., McIntosh, J., Della Peruta, M., Lheriteau, E., Patel, N., Raj, D., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1407309 · Cited by 1,273
Self-citationSelection and evaluation of clinically relevant AAV variants in a xenograft liver model
Lisowski, L., Dane, A. P., Chu, K., Zhang, Y., Cunningham, S. C., Wilson, E. M., Nygaard, S., Grompe, M., Alexander, I. E., & Kay, M. A. (2014) · Nature · doi:10.1038/nature12875 · Cited by 450 · cited 1×
“AAV transduction rates are lower in humans than in mice [50,51]; therefore, using more potent promoters, within a reasonable range of potency, will be necessary to make AAV treatment possible in humans at feasible vector doses.”
BackgroundMcIntosh, J., Lenting, P. J., Rosales, C., Lee, D., Rabbanian, S., Raj, D., Patel, N., Tuddenham, E. G. D., Christophe, O. D., McVey, J. H., et al. (2013) · Blood · doi:10.1182/blood-2012-10-462200 · Cited by 278
Self-citationSuperior In vivo Transduction of Human Hepatocytes Using Engineered AAV3 Capsid
Vercauteren, K., Hoffman, B. E., Zolotukhin, I., Keeler, G. D., Xiao, J. W., Basner-Tschakarjan, E., High, K. A., Ertl, H. C., Rice, C. M., Srivastava, A., et al. (2016) · Molecular Therapy · doi:10.1038/mt.2016.61 · Cited by 114
D’Angelo, R., Boschetti, E., Amore, G., Costa, R., Pugliese, A., Caporali, L., Gramegna, L. L., Papa, V., Vizioli, L., Capristo, M., et al. (2020) · Journal of Neurology · doi:10.1007/s00415-020-10051-x · Cited by 29
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Research works printed but not linked: 46
- Nishino, 1999, Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder, Science, 283, 689, 10.1126/science.283.5402.689 · DOI
- Marti, 2003, Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency, Biochem Biophys Res Commun, 303, 14, 10.1016/S0006-291X(03)00294-8 · DOI
- Spinazzola, 2002, Altered thymidine metabolism due to defects of thymidine phosphorylase, J Biol Chem, 277, 4128, 10.1074/jbc.M111028200 · DOI
- Gonzalez-Vioque, 2011, Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), PLoS Genet, 7, 10.1371/journal.pgen.1002035 · DOI
- Lopez, 2009, Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice, Hum Mol Genet, 18, 714, 10.1093/hmg/ddn401 · DOI
- Nishigaki, 2003, Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency, J Clin Invest, 111, 1913, 10.1172/JCI17828 · DOI
- Nishigaki, 2004, ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy, Hum Mol Genet, 13, 91, 10.1093/hmg/ddh010 · DOI
- Pontarin, 2006, Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy, J Biol Chem, 281, 22720, 10.1074/jbc.M604498200 · DOI
- Garone, 2011, Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy, Brain, 134, 3326, 10.1093/brain/awr245 · DOI
- Cabrera-Pérez, 2015, Prospective therapeutic approaches in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), Expert Opin Orphan Drugs, 3, 1167, 10.1517/21678707.2015.1090307 · DOI
- Halter, 2010, Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach, Bone Marrow Transpl, 46, 330, 10.1038/bmt.2010.100 · DOI
- Hirano, 2006, Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE, Neurology, 67, 1458, 10.1212/01.wnl.0000240853.97716.24 · DOI
- Halter, 2015, Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy, Brain, 138, 2847, 10.1093/brain/awv226 · DOI
- Boschetti, 2014, Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy, PLoS ONE, 9, e96692, 10.1371/journal.pone.0096692 · DOI
- D'Angelo, 2017, Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrion, 34, 101, 10.1016/j.mito.2017.02.006 · DOI
- De Giorgio, 2016, Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy, Ann Neurol, 80, 448, 10.1002/ana.24724 · DOI
- Kripps, 2020, Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), Mol Genet Metab, 130, 58, 10.1016/j.ymgme.2020.03.001 · DOI
- Cabrera-Pérez, 2019, Alpha-1-antitrypsin promoter improves the efficacy of an adeno-associated virus vector for the treatment of mitochondrial neurogastrointestinal encephalomyopathy, Hum Gene Ther, 30, 985, 10.1089/hum.2018.217 · DOI
- Torres-Torronteras, 2016, Long-term restoration of thymidine phosphorylase function and nucleoside homeostasis using hematopoietic gene therapy in a murine model of mitochondrial neurogastrointestinal encephalomyopathy, Hum Gene Ther, 27, 656, 10.1089/hum.2015.160 · DOI
- Torres-Torronteras, 2018, Long-term sustained effect of liver-targeted adeno-associated virus gene therapy for mitochondrial neurogastrointestinal encephalomyopathy, Hum Gene Ther, 29, 708, 10.1089/hum.2017.133 · DOI
- Torres-Torronteras, 2011, Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE, Gene Ther, 18, 795, 10.1038/gt.2011.24 · DOI
- Torres-Torronteras, 2014, Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE, Mol Ther, 22, 901, 10.1038/mt.2014.6 · DOI
- Yadak, 2018, Preclinical efficacy and safety evaluation of hematopoietic stem cell gene therapy in a mouse model of MNGIE, Mol Ther Methods Clin Dev, 8, 152, 10.1016/j.omtm.2018.01.001 · DOI
- Garcia-Diaz, 2014, Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy, Brain, 137, 1337, 10.1093/brain/awu068 · DOI
- Davidoff, 2003, Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway, Blood, 102, 480, 10.1182/blood-2002-09-2889 · DOI · Paper page
- Bradford, 1976, A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding, Anal Biochem, 72, 248, 10.1016/0003-2697(76)90527-3 · DOI · Paper page
- Martí, 2012, Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity, Methods Mol Biol (Clifton, NJ), 837, 121, 10.1007/978-1-61779-504-6_8 · DOI
- Pérez-Pérez, 2005, Thymidine phosphorylase inhibitors: recent developments and potential therapeutic applications, Mini Rev Med Chem, 5, 1113, 10.2174/138955705774933301 · DOI
- Sherman, 1989, Enzymatic assay for deoxyribonucleoside triphosphates using synthetic oligonucleotides as template primers, Anal Biochem, 180, 222, 10.1016/0003-2697(89)90420-X · DOI
- Blázquez-Bermejo, 2019, Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice, EBioMedicine, 46, 342, 10.1016/j.ebiom.2019.07.042 · DOI
- Moolenbeek, 1981, The "Swiss roll": a simple technique for histological studies of the rodent intestine, Lab. Anim., 15, 57, 10.1258/002367781780958577 · DOI
- Hirano, 2008, Sustained biochemical and clinical improvements two years postallogeneic stem cell transplantation in a patient with MNGIE, Neurology, 70, A406
- Marti, 2004, Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays, Clin Chem, 50, 120, 10.1373/clinchem.2003.026179 · DOI
- Valentino, 2007, Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), FEBS Lett, 581, 3410, 10.1016/j.febslet.2007.06.042 · DOI
- Tsuneyoshi, 2006, Induction of thymidine phosphorylase expression by AZT contributes to enhancement of 5′-DFUR cytotoxicity, Cancer Lett, 244, 239, 10.1016/j.canlet.2005.12.020 · DOI
- Meinders, 2020, Expression and retention of thymidine phosphorylase in cultured reticulocytes as a novel treatment for MNGIE, Mol Ther Methods Clin Dev, 17, 822, 10.1016/j.omtm.2020.03.029 · DOI
- Cao, 2005, Abnormalities in uridine homeostatic regulation and pyrimidine nucleotide metabolism as a consequence of the deletion of the uridine phosphorylase gene, J Biol Chem, 280, 21169, 10.1074/jbc.M412343200 · DOI
- Mandell, 2010, The dynamics of brain and cerebrospinal fluid growth in normal versus hydrocephalic mice, J Neurosurg Pediatr, 6, 1, 10.3171/2010.4.PEDS1014 · DOI
- Lee, 2009, Longitudinal evaluation of an N-ethyl-N-nitrosourea-created murine model with normal pressure hydrocephalus, PLoS ONE, 4, e7868, 10.1371/journal.pone.0007868 · DOI
- George, 2017, Hemophilia B gene therapy with a high-specific-activity factor IX variant, N Engl J Med, 377, 2215, 10.1056/NEJMoa1708538 · DOI · Paper page
- Manno, 2006, Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response, Nat Med, 12, 342, 10.1038/nm1358 · DOI · Paper page
- Miao, 2000, Inclusion of the hepatic locus control region, an intron, and untranslated region increases and stabilizes hepatic factor IX gene expression in vivo but not in vitro, Mol Ther, 1, 522, 10.1006/mthe.2000.0075 · DOI
- Nayak, 2010, Progress and prospects: immune responses to viral vectors, Gene Ther, 17, 295, 10.1038/gt.2009.148 · DOI
- Nathwani, 2006, Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver, Blood, 107, 2653, 10.1182/blood-2005-10-4035 · DOI
- Wang, 2003, Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo, Gene Ther, 10, 2105, 10.1038/sj.gt.3302133 · DOI · Paper page
- Simpson, 2012, ExoCarta as a resource for exosomal research, J Extracell Vesicles, 1, 10.3402/jev.v1i0.18374 · DOI
Cited by
Sorted by citations
Chen, J., Huang, H., Chen, C., Xia, G., Huang, H., Xiong, Y., Luo, P., Chen, Y., Li, J., Wen, L., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-08818-x · Cited by 1
Metadata
- Authors
- Vila-Julià, F., Cabrera-Pérez, R., Cámara, Y., Molina-Berenguer, M., Lope-Piedrafita, S., Hirano, M., Mingozzi, F., Torres-Torronteras, J., & Martí, R.
- Venue
- eBioMedicine
- Publisher
- Elsevier BV
- Published
- 2020-12
- Volume
- 62
- Pages
- 103133
- ISSN
- 2352-3964
- PMC
- PMC7689515
- Cited by
- 22
- References
- 5
- Language
- en
- Licence
- Funders
- Generalitat de Catalunya (2018FI_B_01115, SLT002/16/00370)
- Instituto de Salud Carlos III (PI15/00465, PI18/01574, PMP15/00025)
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