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Disease relevance of Tyrosinemias


High impact information on Tyrosinemias


Chemical compound and disease context of Tyrosinemias


Biological context of Tyrosinemias


Anatomical context of Tyrosinemias


Gene context of Tyrosinemias


Analytical, diagnostic and therapeutic context of Tyrosinemias


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  3. Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. Overturf, K., al-Dhalimy, M., Ou, C.N., Finegold, M., Tanguay, R., Lieber, A., Kay, M., Grompe, M. Hum. Gene Ther. (1997) [Pubmed]
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  5. Inhibition of 5-aminolevulinic acid-induced DNA damage by melatonin, N1-acetyl-N2-formyl-5-methoxykynuramine, quercetin or resveratrol. Onuki, J., Almeida, E.A., Medeiros, M.H., Di Mascio, P. J. Pineal Res. (2005) [Pubmed]
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  10. Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Kubo, S., Sun, M., Miyahara, M., Umeyama, K., Urakami, K., Yamamoto, T., Jakobs, C., Matsuda, I., Endo, F. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  11. Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I. Laberge, C., Lescault, A., Grenier, A., Morrisette, J., Gagné, R., Gadbois, P., Halket, J. Am. J. Hum. Genet. (1990) [Pubmed]
  12. Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. Sander, J., Janzen, N., Peter, M., Sander, S., Steuerwald, U., Holtkamp, U., Schwahn, B., Mayatepek, E., Trefz, F.K., Das, A.M. Clin. Chem. (2006) [Pubmed]
  13. Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. Fisch, R.O., McCabe, E.R., Doeden, D., Koep, L.J., Kohlhoff, J.G., Silverman, A., Starzl, T.E. J. Pediatr. (1978) [Pubmed]
  14. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. Kvittingen, E.A., Rootwelt, H., Brandtzaeg, P., Bergan, A., Berger, R. J. Clin. Invest. (1993) [Pubmed]
  15. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Natt, E., Kida, K., Odievre, M., Di Rocco, M., Scherer, G. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  16. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Phaneuf, D., Labelle, Y., Bérubé, D., Arden, K., Cavenee, W., Gagné, R., Tanguay, R.M. Am. J. Hum. Genet. (1991) [Pubmed]
  17. Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Jorquera, R., Tanguay, R.M. Hum. Mol. Genet. (2001) [Pubmed]
  18. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Bergman, A.J., van den Berg, I.E., Brink, W., Poll-The, B.T., Ploos van Amstel, J.K., Berger, R. Hum. Mutat. (1998) [Pubmed]
  19. Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence of glutathione deficiency. Stoner, E., Starkman, H., Wellner, D., Wellner, V.P., Sassa, S., Rifkind, A.B., Grenier, A., Steinherz, P.G., Meister, A., New, M.I. Pediatr. Res. (1984) [Pubmed]
  20. Defect in soluble tyrosine aminotransferase in skin fibroblasts of a patient with tyrosinemia. deGroot, G.W., Dakshinamurti, K., Allan, L., Haworth, J.C. Pediatr. Res. (1980) [Pubmed]
  21. Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase. Dreumont, N., Maresca, A., Khandjian, E.W., Baklouti, F., Tanguay, R.M. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  22. First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination. Jakobs, C., Stellaard, F., Kvittingen, E.A., Henderson, M., Lilford, R. Prenat. Diagn. (1990) [Pubmed]
  23. Variability of human hepatic UDP-glucuronosyltransferase activity. Little, J.M., Lester, R., Kuipers, F., Vonk, R., Mackenzie, P.I., Drake, R.R., Frame, L., Radominska-Pandya, A. Acta Biochim. Pol. (1999) [Pubmed]
  24. Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus. Klebig, M.L., Russell, L.B., Rinchik, E.M. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  25. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II. Natt, E., Westphal, E.M., Toth-Fejel, S.E., Magenis, R.E., Buist, N.R., Rettenmeier, R., Scherer, G. Hum. Genet. (1987) [Pubmed]
  26. Animal models reveal pathophysiologies of tyrosinemias. Endo, F., Tanaka, Y., Tomoeda, K., Tanoue, A., Tsujimoto, G., Nakamura, K. J. Nutr. (2003) [Pubmed]
  27. Expression and post-translational modification of human 4-hydroxy-phenylpyruvate dioxygenase. Aarenstrup, L., Falch, A.M., Jakobsen, K.K., Neve, S., Henriksen L, L.Ø., Tommerup, N., Leffers, H., Kristiansen, K. Cell Biol. Int. (2002) [Pubmed]
  28. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. Phaneuf, D., Lambert, M., Laframboise, R., Mitchell, G., Lettre, F., Tanguay, R.M. J. Clin. Invest. (1992) [Pubmed]
  29. Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. Laberge, C., Grenier, A., Valet, J.P., Morissette, J. Am. J. Hum. Genet. (1990) [Pubmed]
  30. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. Aponte, J.L., Sega, G.A., Hauser, L.J., Dhar, M.S., Withrow, C.M., Carpenter, D.A., Rinchik, E.M., Culiat, C.T., Johnson, D.K. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  31. In vivo selection of hepatocytes transduced with adeno-associated viral vectors. Chen, S.J., Tazelaar, J., Moscioni, A.D., Wilson, J.M. Mol. Ther. (2000) [Pubmed]
  32. The effect of a low-protein diet and dietary supplementation of threonine on tyrosine and 2-(2-nitro-4-trifluoromethylbenzoyl) cyclohexane-1,3-dione-induced corneal lesions, the extent of tyrosinemia, and the activity of enzymes involved in tyrosine catabolism in the rat. Lock, E.A., Gaskin, P., Ellis, M.K., Robinson, M., Provan, W.M., Smith, L.L. Toxicol. Appl. Pharmacol. (1998) [Pubmed]
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