Gene Review:
Fah - fumarylacetoacetate hydrolase
Mus musculus
Synonyms:
Beta-diketonase, FAA, Fumarylacetoacetase, Fumarylacetoacetate hydrolase
Vogel,
van Den Berg,
Al-Dhalimy,
Groopman,
Ou,
Ryabinina,
Iordanov,
Finegold,
Grompe,
Endo,
Kubo,
Awata,
Kiwaki,
Katoh,
Kanegae,
Saito,
Miyazaki,
Yamamoto,
Jakobs,
Hattori,
Matsuda,
Held,
Olivares,
Aguilar,
Finegold,
Calos,
Grompe,
Rinchik,
Carpenter,
Vogel,
Aslan,
Willenbring,
Klein,
Finegold,
Mount,
Thomas,
Grompe,
Willenbring,
Bailey,
Foster,
Akkari,
Dorrell,
Olson,
Finegold,
Fleming,
Grompe,
Endo,
Sun,
- A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice. Sun, M.S., Hattori, S., Kubo, S., Awata, H., Matsuda, I., Endo, F. J. Am. Soc. Nephrol. (2000)
- Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Grompe, M., al-Dhalimy, M., Finegold, M., Ou, C.N., Burlingame, T., Kennaway, N.G., Soriano, P. Genes Dev. (1993)
- Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Kubo, S., Sun, M., Miyahara, M., Umeyama, K., Urakami, K., Yamamoto, T., Jakobs, C., Matsuda, I., Endo, F. Proc. Natl. Acad. Sci. U.S.A. (1998)
- Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. Aponte, J.L., Sega, G.A., Hauser, L.J., Dhar, M.S., Withrow, C.M., Carpenter, D.A., Rinchik, E.M., Culiat, C.T., Johnson, D.K. Proc. Natl. Acad. Sci. U.S.A. (2001)
- Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Overturf, K., Al-Dhalimy, M., Tanguay, R., Brantly, M., Ou, C.N., Finegold, M., Grompe, M. Nat. Genet. (1996)
- Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I. Grompe, M., Lindstedt, S., al-Dhalimy, M., Kennaway, N.G., Papaconstantinou, J., Torres-Ramos, C.A., Ou, C.N., Finegold, M. Nat. Genet. (1995)
- Myelomonocytic cells are sufficient for therapeutic cell fusion in liver. Willenbring, H., Bailey, A.S., Foster, M., Akkari, Y., Dorrell, C., Olson, S., Finegold, M., Fleming, W.H., Grompe, M. Nat. Med. (2004)
- Fungal metabolic model for human type I hereditary tyrosinaemia. Fernández-Cañón, J.M., Peñalva, M.A. Proc. Natl. Acad. Sci. U.S.A. (1995)
- Enhancement of the antitumor effect of flavone acetic acid by the bioreductive cytotoxic drug SR 4233 in a murine carcinoma. Sun, J.R., Brown, J.M. Cancer Res. (1989)
- Flavone acetic acid--from laboratory to clinic and back. Bibby, M.C., Double, J.A. Anticancer Drugs (1993)
- Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. Endo, F., Sun, M.S. J. Inherit. Metab. Dis. (2002)
- Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type 1. Kelsey, G., Ruppert, S., Beermann, F., Grund, C., Tanguay, R.M., Schütz, G. Genes Dev. (1993)
- Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. Endo, F., Kubo, S., Awata, H., Kiwaki, K., Katoh, H., Kanegae, Y., Saito, I., Miyazaki, J., Yamamoto, T., Jakobs, C., Hattori, S., Matsuda, I. J. Biol. Chem. (1997)
- Sustained phosphorylation of Bid is a marker for resistance to Fas-induced apoptosis during chronic liver diseases. Vogel, A., Aslan, J.E., Willenbring, H., Klein, C., Finegold, M., Mount, H., Thomas, G., Grompe, M. Gastroenterology (2006)
- N-ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations. Rinchik, E.M., Carpenter, D.A. Genetics (1999)
- The origin and liver repopulating capacity of murine oval cells. Wang, X., Foster, M., Al-Dhalimy, M., Lagasse, E., Finegold, M., Grompe, M. Proc. Natl. Acad. Sci. U.S.A. (2003)
- Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death. Vogel, A., van Den Berg, I.E., Al-Dhalimy, M., Groopman, J., Ou, C.N., Ryabinina, O., Iordanov, M.S., Finegold, M., Grompe, M. Hepatology (2004)
- Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor. Bateman, R.L., Bhanumoorthy, P., Witte, J.F., McClard, R.W., Grompe, M., Timm, D.E. J. Biol. Chem. (2001)
- Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1. Luijerink, M.C., van Beurden, E.A., Malingré, H.E., Jacobs, S.M., Grompe, M., Klomp, L.W., Berger, R., van den Berg, I.E. Kidney Int. (2004)
- Interaction between the Ah receptor and proteins binding to the AP-1-like electrophile response element (EpRE) during murine phase II [Ah] battery gene expression. Vasiliou, V., Puga, A., Chang, C.Y., Tabor, M.W., Nebert, D.W. Biochem. Pharmacol. (1995)
- In vivo correction of murine hereditary tyrosinemia type I by phiC31 integrase-mediated gene delivery. Held, P.K., Olivares, E.C., Aguilar, C.P., Finegold, M., Calos, M.P., Grompe, M. Mol. Ther. (2005)
- Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice. Ruppert, S., Kelsey, G., Schedl, A., Schmid, E., Thies, E., Schütz, G. Genes Dev. (1992)
- Adenovirus-mediated gene therapy in a mouse model of hereditary tyrosinemia type I. Overturf, K., al-Dhalimy, M., Ou, C.N., Finegold, M., Tanguay, R., Lieber, A., Kay, M., Grompe, M. Hum. Gene Ther. (1997)
- In vivo selection of hepatocytes transduced with adeno-associated viral vectors. Chen, S.J., Tazelaar, J., Moscioni, A.D., Wilson, J.M. Mol. Ther. (2000)