Gene Review:
FAH - fumarylacetoacetate hydrolase...
Homo sapiens
Synonyms:
Beta-diketonase, FAA, Fumarylacetoacetase, Fumarylacetoacetate hydrolase
- Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. Phaneuf, D., Lambert, M., Laframboise, R., Mitchell, G., Lettre, F., Tanguay, R.M. J. Clin. Invest. (1992)
- Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. Bergeron, A., D'Astous, M., Timm, D.E., Tanguay, R.M. J. Biol. Chem. (2001)
- Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. Rootwelt, H., Chou, J., Gahl, W.A., Berger, R., Coşkun, T., Brodtkorb, E., Kvittingen, E.A. Hum. Genet. (1994)
- Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Bergman, A.J., van den Berg, I.E., Brink, W., Poll-The, B.T., Ploos van Amstel, J.K., Berger, R. Hum. Mutat. (1998)
- Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. Wadman, S.K., Duran, M., Ketting, D., Bruinvis, L., van Sprang, F.J., Berger, R., Smit, G.P., Steinmann, B., Leonard, J.V., Divry, P., Farriaux, J.P., Cartigny, B. Clin. Chim. Acta (1983)
- Relationships of anxiety scores to screening and training status of air traffic controllers. Collins, W.E., Schroeder, D.J., Nye, L.G. Aviation, space, and environmental medicine. (1991)
- A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. Grompe, M., St-Louis, M., Demers, S.I., al-Dhalimy, M., Leclerc, B., Tanguay, R.M. N. Engl. J. Med. (1994)
- Self-induced correction of the genetic defect in tyrosinemia type I. Kvittingen, E.A., Rootwelt, H., Berger, R., Brandtzaeg, P. J. Clin. Invest. (1994)
- No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients. Bergeron, A., Lettre, F., Russo, P., Morissette, J., Tanguay, R.M. Gastroenterology (2004)
- Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Labelle, Y., Phaneuf, D., Leclerc, B., Tanguay, R.M. Hum. Mol. Genet. (1993)
- Crystal structure and mechanism of a carbon-carbon bond hydrolase. Timm, D.E., Mueller, H.A., Bhanumoorthy, P., Harp, J.M., Bunick, G.J. Structure (1999)
- Hereditary tyrosinemia type I--an overview. Kvittingen, E.A. Scand. J. Clin. Lab. Invest. Suppl. (1986)
- Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia. Berger, R., van Faassen, H., Smith, G.P. Clin. Chim. Acta (1983)
- The amino acid factor in stone formers' and normal urines. Azoury, R., Garti, N., Sarig, S. Urol. Res. (1986)
- Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Phaneuf, D., Labelle, Y., Bérubé, D., Arden, K., Cavenee, W., Gagné, R., Tanguay, R.M. Am. J. Hum. Genet. (1991)
- Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. Rootwelt, H., Brodtkorb, E., Kvittingen, E.A. Am. J. Hum. Genet. (1994)
- Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Tanguay, R.M., Valet, J.P., Lescault, A., Duband, J.L., Laberge, C., Lettre, F., Plante, M. Am. J. Hum. Genet. (1990)
- Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. Laberge, C., Grenier, A., Valet, J.P., Morissette, J. Am. J. Hum. Genet. (1990)
- Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1. Labelle, Y., Puymirat, J., Tanguay, R.M. Biochim. Biophys. Acta (1993)
- Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. St-Louis, M., Leclerc, B., Laine, J., Salo, M.K., Holmberg, C., Tanguay, R.M. Hum. Mol. Genet. (1994)
- Movement of fatty acids, fatty acid analogues, and bile acids across phospholipid bilayers. Kamp, F., Hamilton, J.A., Kamp, F., Westerhoff, H.V., Hamilton, J.A. Biochemistry (1993)
- Optimal conditions for 4-hydroxybenzoyl- and 2-furoylhydrazine as reagents for the determination of carbohydrates, including ketosamines. Lever, M., Walmsley, T.A., Visser, R.S., Ryde, S.J. Anal. Biochem. (1984)
- Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. Hahn, S.H., Krasnewich, D., Brantly, M., Kvittingen, E.A., Gahl, W.A. Hum. Mutat. (1995)
- A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. Dreumont, N., Poudrier, J.A., Bergeron, A., Levy, H.L., Baklouti, F., Tanguay, R.M. BMC Genet. (2001)
- Enzyme defect in a case of tyrosinemia type I, acute form. Furukawa, N., Kinugasa, A., Seo, T., Ishii, T., Ota, T., Machida, Y., Inoue, F., Imashuku, S., Kusunoki, T., Takamatsu, T. Pediatr. Res. (1984)
- Electromyographic analysis of the upper and lower fascicles of the orbicular oris muscle, in edentulous patients, before and after complete denture implantation. Santos, C.M., Vitti, M., de Mattos, M.d.a. .G., Semprini, M., Paranhos, H.d.e. .F., Regalo, S.C. Electromyography and clinical neurophysiology. (2003)