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Article

Fungal metabolic model for human type I hereditary tyrosinaemia.

Proceedings of the National Academy of Sciences of the United States of America - 26 Sept 1995

Fernández-Cañón J M, Peñalva M A

Abstract excerpt

Type I hereditary tyrosinaemia (HT1) is a severe human inborn disease resulting from loss of fumaryl-acetoacetate hydrolase (Fah). Homozygous disruption of the gene encoding Fah in mice causes neonatal lethality, seriously limiting use of this animal as a model. We report here that fahA, the gene encoding Fah in the fungus Aspergillus nidulans, encodes a polypeptide showing 47.1% identity to its human homologue,...

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Identifiers

PMID: 7568087
DOI: 10.1073/pnas.92.20.9132
PMCID: PMC40938

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