Accès gratuit
Numéro
Med Sci (Paris)
Volume 19, Numéro 10, Octobre 2003
Page(s) 976 - 980
Section M/S Revues
DOI https://doi.org/10.1051/medsci/20031910976
Publié en ligne 15 octobre 2003
  1. Mitchell GA, Grompe M, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases, 8e ed. New York: McGraw-Hill, 2001: 1777–805. [Google Scholar]
  2. Lindsted S, Holme E, Lock EA, Hialmarson O, Strandvik B. Treatment of hereditary tyrosinaemia type 1 by inhibition of 4- hydroxyphenylpyruvate dioxygenase. Lancet 1992; 340: 813–7. [Google Scholar]
  3. De Braekeleer M, Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay- Lac-St-Jean. Am J Hum Genet 1990; 47: 302–7. [Google Scholar]
  4. Poudrier J, St-Louis M, Lettre F, et al. Frequency of the IVS12+5g: a splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinemia in the French Canadian population of Saguenay- Lac-St-Jean. Prenat Diagn 1996; 16: 59–64. [Google Scholar]
  5. St-Louis M, Tanguay RM. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type 1: overview. Hum Mutat 1997; 9: 291–9. [Google Scholar]
  6. Arranz JA, Pinol F, Kozak L, et al. Splicing mutations, mainly IVS6-1(g>t), account for 70 % of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat 2002; 20: 180–8. [Google Scholar]
  7. Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM. Different clinical forms of hereditary tyrosinemia (type 1) in patients with identical genotypes. Mol Genet Metab 1998; 64: 119–25. [Google Scholar]
  8. Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R. Hereditary tyrosinemia type 1. Selfinduced correction of the fumarylacetoacetase defect. J Clin Invest 1993; 91: 1816–21. [Google Scholar]
  9. Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P. Self-induced correction of the genetic defect in tyrosinemia type 1. J Clin Invest 1994; 94: 1657–61. [Google Scholar]
  10. Overturf K, Al-Dhalimy M, Tanguay RM, et al. Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinemia type I. Nat Genet 1996; 12: 266–73. [Google Scholar]
  11. Jorquera R, Tanguay RM. Cyclin B-dependent kinase and caspase-1 activation precedes mitochondrial dysfunction in fumarylacetoacetateinduced apoptosis. FASEB J 1999; 13: 2284–98. [Google Scholar]
  12. Kubo S, Sun M, Miyahara M, et al. Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Proc Natl Acad Sci USA 1998; 95: 9552–7. [Google Scholar]
  13. Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr 1976; 88: 434–8. [Google Scholar]
  14. Tanguay RM, Jorquera R, Poudrier J, St-Louis M. Tyrosine and its catabolites: From disease to cancer. Acta Biochim Pol 1996; 43: 209–16. [Google Scholar]
  15. Jorquera R, Tanguay RM. The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 1997; 232: 42–8. [Google Scholar]
  16. Jorquera R, Tanguay RM. Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet 2001; 10: 1741–52. [Google Scholar]
  17. Gilbert-Barness E, Barness LA, Meisner LF. Chromosomal instability in hereditary tyrosinemia type1. Pediatr Pathol 1990; 10: 243–52. [Google Scholar]
  18. Prieto-Alamo MJ, Laval F. Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. Proc Natl Acad Sci USA 1998; 95: 12614–8. [Google Scholar]
  19. Kelsey G, Ruppert S, Beermann F, Grund C, Tanguay RM, Schutz G. Rescue of mice homozygous for lethal albino deletions: Implications for an animal model for the human liver disease tyrosinemia type I. Genes Dev 1993; 7: 2285–97. [Google Scholar]
  20. Spear E, Ng DT. The unfolded protein response: No longer just a special teams player. Traffic 2001; 2: 515–23. [Google Scholar]
  21. Yoneda T, Urano F, Ron D. Transmission of proteotoxicity across cellular compartments. Genes Dev 2002; 16: 1307–13. [Google Scholar]
  22. Kaufman RJ. Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls. Genes Dev 1999; 13: 1211–33. [Google Scholar]
  23. Al-Dhalimy M, Overturf K, Finegold M, Grompe M. Long-term therapy with NTBC and tyrosinerestricted diet in a murine model of hereditary tyrosinemia type I. Mol Genet Metab 2002; 75: 38–45. [Google Scholar]

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