Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase

This publication has 39 references indexed in Scilit:

• Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia
  Published by Elsevier ,2003
• 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
  Human Mutation, 2002
• Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability
  Human Molecular Genetics, 2001
• Cyclin B‐dependent kinase and caspase‐1 activation precedes mitochondrial dysfunction in fumarylacetoacetate‐induced apoptosis
  The FASEB Journal, 1999
• Different Clinical Forms of Hereditary Tyrosinemia (Type I) in Patients with Identical Genotypes
  Molecular Genetics and Metabolism, 1998
• The Mutagenicity of the Tyrosine Metabolite, Fumarylacetoacetate, Is Enhanced by Glutathione Depletion
  Biochemical and Biophysical Research Communications, 1997
• Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
  Human Mutation, 1997
• Self-induced correction of the genetic defect in tyrosinemia type I.
  Journal of Clinical Investigation, 1994
• Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I
  Human Molecular Genetics, 1994
• Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
  Human Molecular Genetics, 1993