Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
暂无分享,去创建一个
V. Carelli | A. Hahn | M. Valentino | M. Hirano | J. Manes | R. Martí | L. C. López | S. Tadesse | J. Lyzak | L. Lopez
[1] P. Reichard,et al. Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy* , 2006, Journal of Biological Chemistry.
[2] Y. Lai,et al. Identification of the Mitochondrial Targeting Signal of the Human Equilibrative Nucleoside Transporter 1 (hENT1) , 2006, Journal of Biological Chemistry.
[3] G. Plazzi,et al. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. , 2006, Gastroenterology.
[4] J. Arenas,et al. Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE , 2005, Neuromuscular Disorders.
[5] A. V. van Kuilenburg,et al. Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity , 2005, Annals of neurology.
[6] P. Reichard,et al. Mitochondrial Deoxyribonucleotides, Pool Sizes, Synthesis, and Regulation* , 2004, Journal of Biological Chemistry.
[7] Yurong Lai,et al. Mitochondrial Expression of the Human Equilibrative Nucleoside Transporter 1 (hENT1) Results in Enhanced Mitochondrial Toxicity of Antiviral Drugs* , 2004, Journal of Biological Chemistry.
[8] M. Hirano,et al. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes , 2004, The neurologist.
[9] M. Hirano,et al. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. , 2003, Human molecular genetics.
[10] L. Wheeler,et al. Deoxyribonucleotide Pool Imbalance Stimulates Deletions in HeLa Cell Mitochondrial DNA* , 2003, Journal of Biological Chemistry.
[11] P. Reichard,et al. Origins of mitochondrial thymidine triphosphate: Dynamic relations to cytosolic pools , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[12] J. Muddle,et al. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. , 2003, Human molecular genetics.
[13] M. Hirano,et al. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. , 2003, The Journal of clinical investigation.
[14] M. Hirano,et al. Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. , 2003, Biochemical and biophysical research communications.
[15] J. Duley,et al. Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE) , 2002, Journal of Inherited Metabolic Disease.
[16] J. Leffert,et al. Homeostatic control of uridine and the role of uridine phosphorylase: a biological and clinical update. , 2002, Biochimica et biophysica acta.
[17] I. Nishino,et al. Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase* , 2002, The Journal of Biological Chemistry.
[18] S. Dimauro,et al. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations , 2000, Annals of neurology.
[19] I. Nishino,et al. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. , 1999, Science.
[20] S. Salani,et al. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome , 1998, Neurology.
[21] R. Bicknell,et al. Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis. , 1998, The Biochemical journal.
[22] T. Kato,et al. Tissue distribution of human gliostatin/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression. , 1996, Biochimica et biophysica acta.
[23] K. Funa,et al. Neurons of the peripheral nervous system express thymidine phosphorylase , 1995, Neuroscience Letters.
[24] A. Harris,et al. Platelet‐derived endothelial cell growth factor/thymidine phosphorylase expression in normal tissues: An immunohistochemical study , 1995, The Journal of pathology.
[25] F. Naguib,et al. Differences in activities and substrate specificity of human and murine pyrimidine nucleoside phosphorylases: implications for chemotherapy with 5-fluoropyrimidines. , 1993, Cancer research.
[26] K. Miyazono,et al. Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene , 1991, Molecular and cellular biology.
[27] K. Miyazono,et al. Localization of platelet-derived endothelial cell growth factor in human placenta and purification of an alternatively processed form. , 1990, Cell regulation.
[28] T. Furukawa,et al. Purification and tissue distribution of human thymidine phosphorylase; high expression in lymphocytes, reticulocytes and tumors. , 1990, Biochimica et biophysica acta.
[29] S. Dimauro,et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase , 1987, Acta Neuropathologica.
[30] P. K. Smith,et al. Measurement of protein using bicinchoninic acid. , 1985, Analytical biochemistry.
[31] P. Wiernik,et al. Pharmacokinetic studies during phase I trials of high-dose thymidine infusions. , 1979, Cancer research.
[32] M. Friedkin,et al. The enzymatic synthesis of nucleosides. I. Thymidine phosphorylase in mammalian tissue. , 1954, The Journal of biological chemistry.
[33] I. Nishino,et al. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. , 2004, Clinical chemistry.
[34] G. Amidon,et al. Membrane Transporters as Drug Targets , 2002, Pharmaceutical Biotechnology.
[35] J. Mackey,et al. Nucleoside transporters of mammalian cells. , 1999, Pharmaceutical biotechnology.