AnatomyDiseasesChemicals and DrugsPsychiatry and Psychology
TyrosinemiasAmino Acid Metabolism, Inborn ErrorsHeptanoates4-Hydroxyphenylpyruvate DioxygenaseHydrolasesPorphobilinogen SynthaseHomogentisic AcidAcetoacetatesTyrosineCyclohexanonesLiverNitrobenzoatesMuscle HypertoniaSelf MutilationPhenylpyruvic Acids
SyndromesRenalAbstractType III
Syndromes2
  • This review focuses on the mechanisms and the effects of NRF2 activation in two hereditary cancer predisposition syndromes: hereditary leiomyomatosis and renal cell cancer (HLRCC) and hereditary tyrosinemia type 1 (HT1). (nih.gov)
  • Because the cancer initiating mutations in these hereditary syndromes are well defined, they offer a unique opportunity to explore the roles of NRF2 activation in the early stages of carcinogenesis. (nih.gov)
Renal2
  • Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1). (nih.gov)
  • Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. (bvsalud.org)
Abstract2
  • abstract = "Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fumarylacetoacetate hydrolase, the last enzyme in the tyrosine catabolic pathway. (elsevierpure.com)
  • abstract = "Hereditary tyrosinemia type 1 (HT1) is a genetic disorder of the tyrosine degradation pathway (TIMD) with unmet therapeutic needs. (edgehill.ac.uk)
Type III1