Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I

@article{Bliksrud2012FumarylacetoacetateIT,
  title={Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I},
  author={Yngve Thomas Bliksrud and Amund Ellingsen and Magnar Bj\or{\aa}s},
  journal={Journal of Inherited Metabolic Disease},
  year={2012},
  volume={36},
  pages={773-778}
}
Hereditary tyrosinemia type I (HT1) is an autosomal recessive disease caused by a deficiency in human fumarylacetoacetate (FAA) hydrolase (FAH), which is the last enzyme in the catabolic pathway of tyrosine. Several reports suggest that intracellular accumulation of intermediates of tyrosine catabolism, such as FAA and succinylacetone (SA) is important for the pathogenesis in liver and kidney of HT1 patients. In this work, we examined the effect of FAA and SA on DNA glycosylases initiating base… CONTINUE READING

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