Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

@article{Espins2009MutationsIT,
  title={Mutations in the urocanase gene UROC1 are associated with urocanic aciduria},
  author={C. Espin{\'o}s and M. Pineda and D. Mart{\'i}nez-Rubio and V. Lupo and A. Ormazabal and M. Vilaseca and L. Spaapen and F. Palau and R. Artuch},
  journal={Journal of Medical Genetics},
  year={2009},
  volume={46},
  pages={407 - 411}
}
Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Computed (in silico) predictions, protein expression studies and enzyme activity assays suggest that none of the mutations can produce a fully functional enzyme. The p.L70P substitution, which probably implies the… Expand
16 Citations
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1
  • 7
Structure of Urocanate Hydratase from the protozoan Trypanosoma cruzi.
Congenital hypomyelinating neuropathy due to a novel MPZ mutation
  • 13
  • PDF
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
  • 35
Regulation of the Histidine Utilization (Hut) System in Bacteria
  • R. Bender
  • Biology, Medicine
  • Microbiology and Molecular Reviews
  • 2012
  • 78
  • PDF
Histidine Metabolism and Function.
  • 2
  • PDF
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics
  • 62
  • PDF
A proposed nosology of inborn errors of metabolism
  • 59
  • PDF
...
1
2
...

References

SHOWING 1-10 OF 32 REFERENCES
Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded.
  • 15
The molecular basis of glutamate formiminotransferase deficiency
  • 47
A liver urocanase deficiency.
  • 10
Structure and action of urocanase.
  • 25
SNPs, protein structure, and disease
  • 643
  • PDF
Cerebral folate deficiency.
  • 211
  • PDF
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.
  • 210
  • PDF
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.
  • 49
  • PDF
Induction and repression of the histidine-degrading enzymes of Bacillus subtilis.
  • 106
  • PDF
...
1
2
3
4
...