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For: Martı́ R, Nishigaki Y, Hirano M. Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochemical and Biophysical Research Communications 2003;303:14-8. [DOI: 10.1016/s0006-291x(03)00294-8] [Cited by in Crossref: 71] [Cited by in F6Publishing: 26] [Article Influence: 3.7] [Reference Citation Analysis]
Number Citing Articles
1 Levene M, Pacitti D, Gasson C, Hall J, Sellos-Moura M, Bax BE. Validation of an Immunoassay for Anti-thymidine Phosphorylase Antibodies in Patients with MNGIE Treated with Enzyme Replacement Therapy. Mol Ther Methods Clin Dev 2018;11:1-8. [PMID: 30294618 DOI: 10.1016/j.omtm.2018.08.007] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
2 Torres-Torronteras J, Gómez A, Eixarch H, Palenzuela L, Pizzorno G, Hirano M, Andreu AL, Barquinero J, Martí R. Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE. Gene Ther 2011;18:795-806. [PMID: 21451581 DOI: 10.1038/gt.2011.24] [Cited by in Crossref: 40] [Cited by in F6Publishing: 37] [Article Influence: 3.6] [Reference Citation Analysis]
3 Garone C, Tadesse S, Hirano M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2011;134:3326-3332. [PMID: 21933806 DOI: 10.1093/brain/awr245] [Cited by in Crossref: 127] [Cited by in F6Publishing: 111] [Article Influence: 11.5] [Reference Citation Analysis]
4 Boschetti E, D'Alessandro R, Bianco F, Carelli V, Cenacchi G, Pinna AD, Del Gaudio M, Rinaldi R, Stanghellini V, Pironi L, Rhoden K, Tugnoli V, Casali C, De Giorgio R. Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. PLoS One 2014;9:e96692. [PMID: 24802030 DOI: 10.1371/journal.pone.0096692] [Cited by in Crossref: 30] [Cited by in F6Publishing: 29] [Article Influence: 3.8] [Reference Citation Analysis]
5 López LC, Akman HO, García-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet 2009;18:714-22. [PMID: 19028666 DOI: 10.1093/hmg/ddn401] [Cited by in Crossref: 97] [Cited by in F6Publishing: 93] [Article Influence: 6.9] [Reference Citation Analysis]
6 Dimauro S. A history of mitochondrial diseases. J Inherit Metab Dis 2011;34:261-76. [PMID: 20490929 DOI: 10.1007/s10545-010-9082-x] [Cited by in Crossref: 59] [Cited by in F6Publishing: 43] [Article Influence: 4.9] [Reference Citation Analysis]
7 Aa N, Lu Y, Yu M, Tang H, Lu Z, Sun R, Wang L, Li C, Yang Z, Aa J, Kong X, Wang G. Plasma Metabolites Alert Patients With Chest Pain to Occurrence of Myocardial Infarction. Front Cardiovasc Med 2021;8:652746. [PMID: 33969016 DOI: 10.3389/fcvm.2021.652746] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Bax BE. Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment. J Transl Genet Genom 2020;4:1-16. [PMID: 32914088 DOI: 10.20517/jtgg.2020.08] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
9 Bronckaers A, Gago F, Balzarini J, Liekens S. The dual role of thymidine phosphorylase in cancer development and chemotherapy. Med Res Rev. 2009;29:903-953. [PMID: 19434693 DOI: 10.1002/med.20159] [Cited by in Crossref: 128] [Cited by in F6Publishing: 120] [Article Influence: 10.7] [Reference Citation Analysis]
10 Hirano M, Garone C, Quinzii CM. CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta 2012;1820:625-31. [PMID: 22274133 DOI: 10.1016/j.bbagen.2012.01.006] [Cited by in Crossref: 66] [Cited by in F6Publishing: 54] [Article Influence: 6.6] [Reference Citation Analysis]
11 Valentino ML, Martí R, Tadesse S, López LC, Manes JL, Lyzak J, Hahn A, Carelli V, Hirano M. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). FEBS Lett 2007;581:3410-4. [PMID: 17612528 DOI: 10.1016/j.febslet.2007.06.042] [Cited by in Crossref: 51] [Cited by in F6Publishing: 48] [Article Influence: 3.4] [Reference Citation Analysis]
12 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
13 Martí R, López LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol 2012;837:121-33. [PMID: 22215544 DOI: 10.1007/978-1-61779-504-6_8] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.0] [Reference Citation Analysis]
14 Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N. Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. J Clin Med 2019;8:E1096. [PMID: 31344955 DOI: 10.3390/jcm8081096] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 6.7] [Reference Citation Analysis]
15 Copeland WC. Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol 2012;47:64-74. [PMID: 22176657 DOI: 10.3109/10409238.2011.632763] [Cited by in Crossref: 115] [Cited by in F6Publishing: 104] [Article Influence: 11.5] [Reference Citation Analysis]
16 Pacitti D, Levene M, Garone C, Nirmalananthan N, Bax BE. Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far. Front Genet 2018;9:669. [PMID: 30627136 DOI: 10.3389/fgene.2018.00669] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 4.3] [Reference Citation Analysis]
17 Kipper K, Hecht M, Antunes NJ, Fairbanks LD, Levene M, Kalkan Uçar S, Schaefer A, Blakely EL, Bax BE. Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med 2020;9:E788. [PMID: 32183169 DOI: 10.3390/jcm9030788] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
18 Levene M, Bain MD, Moran NF, Nirmalananthan N, Poulton J, Scarpelli M, Filosto M, Mandel H, MacKinnon AD, Fairbanks L, Pacitti D, Bax BE. Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med 2019;8:E457. [PMID: 30959750 DOI: 10.3390/jcm8040457] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 5.7] [Reference Citation Analysis]
19 Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med 2008;59:131-46. [PMID: 17892433 DOI: 10.1146/annurev.med.59.053006.104646] [Cited by in Crossref: 200] [Cited by in F6Publishing: 185] [Article Influence: 14.3] [Reference Citation Analysis]
20 Gramegna LL, Pisano A, Testa C, Manners DN, D'Angelo R, Boschetti E, Giancola F, Pironi L, Caporali L, Capristo M, Valentino ML, Plazzi G, Casali C, Dotti MT, Cenacchi G, Hirano M, Giordano C, Parchi P, Rinaldi R, De Giorgio R, Lodi R, Carelli V, Tonon C. Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy. AJNR Am J Neuroradiol 2018;39:427-34. [PMID: 29348134 DOI: 10.3174/ajnr.A5507] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 2.8] [Reference Citation Analysis]
21 Cabrera-Pérez R, Vila-Julià F, Hirano M, Mingozzi F, Torres-Torronteras J, Martí R. Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy. Hum Gene Ther 2019;30:985-98. [PMID: 30900470 DOI: 10.1089/hum.2018.217] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.7] [Reference Citation Analysis]
22 Bakker JA, Schlesser P, Smeets HJ, Francois B, Bierau J. Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. J Inherit Metab Dis 2010;33 Suppl 3:S139-43. [PMID: 20151198 DOI: 10.1007/s10545-010-9049-y] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
23 Hirano M, Martí R, Casali C, Tadesse S, Uldrick T, Fine B, Escolar DM, Valentino ML, Nishino I, Hesdorffer C, Schwartz J, Hawks RG, Martone DL, Cairo MS, DiMauro S, Stanzani M, Garvin JH Jr, Savage DG. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006;67:1458-60. [PMID: 16971696 DOI: 10.1212/01.wnl.0000240853.97716.24] [Cited by in Crossref: 123] [Cited by in F6Publishing: 109] [Article Influence: 7.7] [Reference Citation Analysis]
24 Torres-Torronteras J, Cabrera-Pérez R, Vila-Julià F, Viscomi C, Cámara Y, Hirano M, Zeviani M, Martí R. Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy. Hum Gene Ther 2018;29:708-18. [PMID: 29284302 DOI: 10.1089/hum.2017.133] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 5.0] [Reference Citation Analysis]
25 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. Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 2014;22:901-7. [PMID: 24448160 DOI: 10.1038/mt.2014.6] [Cited by in Crossref: 41] [Cited by in F6Publishing: 34] [Article Influence: 5.1] [Reference Citation Analysis]
26 Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. EMBO Mol Med 2014;6:1016-27. [PMID: 24968719 DOI: 10.15252/emmm.201404092] [Cited by in Crossref: 61] [Cited by in F6Publishing: 46] [Article Influence: 8.7] [Reference Citation Analysis]