메뉴 건너뛰기




Volumn 21, Issue 4, 2001, Pages 563-571

The pathophysiology and treatment of hereditary tyrosinemia type 1

Author keywords

Hepatocarcinoma therapy; Succinylacetone; Tyrosinemia

Indexed keywords

2 (2 NITRO 4 TRIFLUOROMETHYLBENZYOL) 1,3 CYCLOHEXANEDIONE; 4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; ACETOACETIC ACID; AMINO ACID; COMPLEMENTARY DNA; ENZYME INHIBITOR; FUMARIC ACID; FUMARYLACETOACETASE; HERBICIDE; MIKADO; PHENYLALANINE; SUCCINIC ACID; SUCCINYLACETONE; TYROSINE; UNCLASSIFIED DRUG;

EID: 0035196687     PISSN: 02728087     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-19035     Document Type: Review
Times cited : (152)

References (85)
  • 8
    • 0025977277 scopus 로고
    • Cloning and expression of the cDNA encoding human fumarylacetoacetae hydrolase, the enzyme deficient in hereditary tyrosinemia: Assignment of the gene to chromosome 15
    • (1991) Am J Hum Genet , vol.48 , pp. 525-535
    • Phaneuf, D.1    Labelle, Y.2    Bérubé, D.3
  • 16
    • 0026531826 scopus 로고
    • The human fumarylacetoacetase gene: Characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency
    • (1992) Hum Genet , vol.89 , pp. 229-233
    • Rootwelt, H.1    Kvittingen, E.A.2    Hoie, K.3
  • 27
    • 7344229198 scopus 로고    scopus 로고
    • From toxicological problem to therapeutic use: The discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug
    • (1998) J Inherit Metab Dis , vol.21 , pp. 498-506
    • Lock, E.A.1    Ellis, M.K.2    Gaskin, P.3
  • 31
    • 0020685938 scopus 로고
    • Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement
    • (1983) Pediatr Res , vol.17 , pp. 25-29
    • Giardini, O.1    Cantani, A.2    Kennaway, N.G.3
  • 38
    • 77049306996 scopus 로고
    • Homogentisate metabolism: The isomerization of maleylacetoacetate by an enzyme which requires glutathione
    • (1956) J Biol Chem , vol.220 , pp. 79
    • Edwards, S.W.1    Knox, W.E.2
  • 48
    • 0026756172 scopus 로고
    • Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice
    • (1992) Genes Dev , vol.6 , pp. 1430-1443
    • Ruppert, S.1    Kelsey, G.2    Schedl, A.3
  • 50
    • 0033959638 scopus 로고    scopus 로고
    • 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
    • (2000) J Am Soc Nephrol , vol.11 , pp. 291-300
    • Sun, M.S.1    Hattori, S.2    Kubo, S.3
  • 51
    • 0032797275 scopus 로고    scopus 로고
    • Cyclin B-dependent kinase and caspase-1 activation precedes mitochondrial dysfunction in fumarylacetoacetate-induced apoptosis
    • (1999) FASEB J , vol.13 , pp. 2284-2298
    • Jorquera, R.1    Tanguay, R.M.2
  • 53
    • 0018377476 scopus 로고
    • Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse
    • (1979) Cell , vol.16 , pp. 225-237
    • Gluecksohn-Waelsch, S.1
  • 60
    • 0029549959 scopus 로고
    • Interaction between the Ah receptor and proteins binding to the AP-l-like electrophile response element (EpRE) during murine phase II [Ah] battery gene expression
    • (1995) Biochem Pharmacol , vol.50 , pp. 2057-2068
    • Vasiliou, V.1    Puga, A.2    Chang, C.Y.3
  • 65
    • 0020396713 scopus 로고
    • Succinylacetone inhibits delta-aminolevulinate dehydratase and potentiates the drug and steroid induction of delta-aminolevulinate synthase in liver
    • (1982) Trans Assoc Am Physicians , vol.95 , pp. 42-52
    • Sassa, S.1    Kappas, A.2
  • 82
    • 0029132294 scopus 로고
    • Molecular characterization of a gene encoding a homogentisate dioxygenase from Aspergillus nidulans and identification of its human and plant homologues
    • (1995) J Biol Chem , vol.270 , pp. 21199-21205
    • Fernandez-Canon, J.M.1    Penalva, M.A.2
  • 84
    • 50749093820 scopus 로고
    • The incidence of alkaptonuria: A study in chemical individuality
    • (1902) Lancet , vol.2 , pp. 1616-1620
    • Garrod, A.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.