fumarylacetoacetate hydrolase ; Homo sapiens






92 Article(s)
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1 270706 On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 1977 Oct 3
2 1749221 Tyrosinaemia type I--an update. J Inherit Metab Dis 1991 2
3 1998338 Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet 1991 Mar 2
4 2195095 Purification of human liver fumarylacetoacetase using immunoaffinity chromatography. J Biochem Biophys Methods 1990 Apr-May 1
5 2378356 Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). Am J Hum Genet 1990 Aug 2
6 2378358 Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. Am J Hum Genet 1990 Aug 1
7 3296130 Hereditary tyrosinemia type I--an overview. Scand J Clin Lab Invest Suppl 1986 2
8 3473612 The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase. Scand J Clin Lab Invest Suppl 1986 1
9 4064334 Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity. Clin Chim Acta 1985 Nov 15 1
10 6547574 Optimal conditions for 4-hydroxybenzoyl- and 2-furoylhydrazine as reagents for the determination of carbohydrates, including ketosamines. Anal Biochem 1984 May 15 4
11 6652907 Biochemical studies on the enzymatic deficiencies in hereditary tyrosinemia. Clin Chim Acta 1983 Oct 31 2
12 6826727 Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone. J Clin Invest 1983 Mar 2
13 6872257 Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. Clin Chim Acta 1983 May 30 1
14 7182986 Succinylacetone inhibits delta-aminolevulinate dehydratase and potentiates the drug and steroid induction of delta-aminolevulinate synthase in liver. Trans Assoc Am Physicians 1982 2
15 7568087 Fungal metabolic model for human type I hereditary tyrosinaemia. Proc Natl Acad Sci U S A 1995 Sep 26 1
16 7623442 Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency. J Inherit Metab Dis 1995 1
17 7702626 Correction of fumarylacetoacetate hydrolase deficiency (type I tyrosinemia) in cultured human fibroblasts by retroviral-mediated gene transfer. Biochem Biophys Res Commun 1995 Mar 28 1
18 8162054 Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum Mol Genet 1994 Jan 3
19 8204664 Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I. Biochim Biophys Acta 1994 May 25 2
20 8364576 Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Hum Mol Genet 1993 Jul 4
21 8790725 Tyrosine and its catabolites: from disease to cancer. Acta Biochim Pol 1996 1
22 8889268 Tyrosinemia: the Quebec experience. Clin Invest Med 1996 Oct 2
23 9101289 Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. Hum Mutat 1997 2
24 9392420 Diacylglycerol is the preferred substrate in high density lipoproteins for human hepatic lipase. J Lipid Res 1997 Nov 7
25 9728331 Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis 1998 Aug 1
26 9770534 Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I. Proc Natl Acad Sci U S A 1998 Oct 13 1
27 10049978 Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure. Pediatrics 1999 Mar 1
28 10331655 Mechanisms of cellular uptake of long chain free fatty acids. Mol Cell Biochem 1999 Feb 1
29 10508789 Crystal structure and mechanism of a carbon-carbon bond hydrolase. Structure 1999 Sep 15 15
30 10593876 Cyclin B-dependent kinase and caspase-1 activation precedes mitochondrial dysfunction in fumarylacetoacetate-induced apoptosis. FASEB J 1999 Dec 6
31 11154690 Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor. J Biol Chem 2001 May 4 17
32 11209059 Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. Proc Natl Acad Sci U S A 2001 Jan 16 7
33 11234769 Fibrillar amyloid beta-protein forms a membrane-like hydrophobic domain. Neuroreport 2001 Mar 5 1
34 11278491 Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. J Biol Chem 2001 May 4 2
35 11476670 A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. BMC Genet 2001 2
36 11532983 Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet 2001 Aug 15 8
37 12052898 Maleylacetoacetate isomerase (MAAI/GSTZ)-deficient mice reveal a glutathione-dependent nonenzymatic bypass in tyrosine catabolism. Mol Cell Biol 2002 Jul 4
38 12899938 Pharmacological rescue of the 14CoS/14CoS mouse: hepatocyte apoptosis is likely caused by endogenous oxidative stress. Free Radic Biol Med 2003 Aug 15 1
39 12944177 A potential biomarker of kidney damage identified by proteomics: preliminary findings. Biomarkers 2003 May-Aug 6
40 14613010 [Hereditary tyrosinemia: an endoplasmic reticulum stress disorder?]. Med Sci (Paris) 2003 Oct 1
41 15521007 No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients. Gastroenterology 2004 Nov 2
42 15551868 X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. Biol Chem 2004 Oct 2
43 16263080 DNA damage and repair in mammalian cells exposed to p-hydroxyphenylpyruvic acid. Biochem Biophys Res Commun 2005 Dec 16 1
44 16414314 A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I. J Chromatogr B Analyt Technol Biomed Life Sci 2006 Feb 17 2
45 16492973 Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity. Pediatr Res 2006 Mar 4
46 17064256 Slow-onset inhibition of fumarylacetoacetate hydrolase by phosphinate mimics of the tetrahedral intermediate: kinetics, crystal structure and pharmacokinetics. Biochem J 2007 Mar 1 10
47 17881244 Charge-remote fragmentation of lithiated fatty acids on a TOF-TOF instrument using matrix-ionization. J Am Soc Mass Spectrom 2007 Nov 2
48 19569981 Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1. Clin Chem Lab Med 2009 2
49 20003495 A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. Orphanet J Rare Dis 2009 Dec 15 4
50 21308989 Hypermethioninemias of genetic and non-genetic origin: A review. Am J Med Genet C Semin Med Genet 2011 Feb 15 1