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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,...

Topics

Amino Acid Metabolism, Inborn Errors
Amino Acid Sequence
Aspergillus nidulans
Chromatography, High Pressure Liquid
Dioxygenases
Enzyme Inhibitors
Gas Chromatography-Mass Spectrometry
Genes, Fungal
Heptanoates
Homogentisate 1,2-Dioxygenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hydrolases

Models, Genetic

Molecular Sequence Data

Mutation

Open Reading Frames

Oxygenases

Phenylalanine

Source

Open in PubMed Open full text

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7568087-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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