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Article

Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells.

Journal of inherited metabolic disease - 1 May 2002

Endo F, Sun M S

Abstract excerpt

Hereditary tyrosinaemia type I (HT 1) (McKusick 276700) is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) activity, the last enzyme in the tyrosine catabolic pathway. Homozygous disruption of the gene encoding FAH in mice (Fah) causes neonatal lethality (i.e. lethal Albino deletion c14CoS mice), which limits the use of this animal as a model for HT I. We developed a new mouse model that carries two...

Topics

4-Hydroxyphenylpyruvate Dioxygenase
Animals
Apoptosis
Cytochrome c Group
Disease Models, Animal
Hepatocytes
Humans
Hydrolases
Kidney Tubules
Mice
Mice, Knockout
Mitochondria, Liver

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Tyrosinemias

Source

Identifiers

PMID: 12137232
DOI: 10.1023/a:1015646400182

Genes

FAH
HPD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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