Tyrosinaemia type III: immunochemical studies on 4-hydroxyphenylpyruvic acid dioxygenase and molecular cloning of cDNA for the enzyme.

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作者信息

Endo F, Awata H, Tanoue A, Eda Y, Matsuda I

机构信息

Department of Pediatrics, Kumamoto University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1991;14(5):783-6. doi: 10.1007/BF01799950.

DOI:10.1007/BF01799950

PMID:1779624

Abstract

摘要

相似文献

Tyrosinaemia type III: immunochemical studies on 4-hydroxyphenylpyruvic acid dioxygenase and molecular cloning of cDNA for the enzyme.

J Inherit Metab Dis. 1991;14(5):783-6. doi: 10.1007/BF01799950.

Putative genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase in mice: a murine model for hereditary tyrosinaemia type III.小鼠中4-羟基苯丙酮酸双加氧酶的假定基因缺陷：III型遗传性酪氨酸血症的小鼠模型。

J Inherit Metab Dis. 1990;13(5):780-2. doi: 10.1007/BF01799587.

A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia.III型酪氨酸血症的小鼠模型：在一种新的高酪氨酸血症小鼠品系中缺乏免疫可检测的4-羟基苯丙酮酸双加氧酶蛋白

Am J Hum Genet. 1991 Apr;48(4):704-9.

Primary structure deduced from complementary DNA sequence and expression in cultured cells of mammalian 4-hydroxyphenylpyruvic acid dioxygenase. Evidence that the enzyme is a homodimer of identical subunits homologous to rat liver-specific alloantigen F.从互补DNA序列推导的哺乳动物4-羟基苯丙酮酸双加氧酶的一级结构及其在培养细胞中的表达。该酶是与大鼠肝脏特异性同种异型抗原F同源的相同亚基的同型二聚体的证据。

J Biol Chem. 1992 Dec 5;267(34):24235-40.

A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency.一种由于4-羟基苯丙酮酸氧化酶缺乏导致的新型高酪氨酸血症变异型。

J Inherit Metab Dis. 1982;5(4):237-8. doi: 10.1007/BF02179153.

A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.4-羟基苯丙酮酸双加氧酶基因（Hpd）中的无义突变导致组成型外显子跳跃，并在III型小鼠品系中引发高酪氨酸血症。

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Autoimmune thyroiditis in a case of tyrosinaemia type III.III型酪氨酸血症病例中的自身免疫性甲状腺炎

J Inherit Metab Dis. 1992;15(6):861-2. doi: 10.1007/BF01800222.

[Hereditary tyrosinemia type III].[遗传性III型酪氨酸血症]

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In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic acid dioxygenase deficiencies in strain III mice.

Hum Gene Ther. 1997 Jan 1;8(1):65-71. doi: 10.1089/hum.1997.8.1-65.

Outcome of tyrosinaemia type III.III型酪氨酸血症的结局

J Inherit Metab Dis. 2001 Dec;24(8):824-32. doi: 10.1023/a:1013936107064.

本文引用的文献

Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.

Clin Chim Acta. 1981 Jul 18;114(1):37-44. doi: 10.1016/0009-8981(81)90225-4.

Purification and properties of hog liver 4-hydroxyphenylpyruvate dioxygenase.

Arch Biochem Biophys. 1982 Jun;216(1):62-73. doi: 10.1016/0003-9861(82)90188-6.

Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia.富马酰乙酰乙酸酶正常的对羟基苯丙酮酸氧化酶缺乏症：遗传性高酪氨酸血症的一种新变异形式

Pediatr Res. 1983 Feb;17(2):92-6. doi: 10.1203/00006450-198302000-00002.

Cleavage of structural proteins during the assembly of the head of bacteriophage T4.在噬菌体T4头部组装过程中结构蛋白的切割

Nature. 1970 Aug 15;227(5259):680-5. doi: 10.1038/227680a0.

Radiochemical assays for p-hydroxyphenylpyruvate hydroxylase activity in human liver.人肝脏中对羟基苯丙酮酸羟化酶活性的放射化学测定法。

Clin Chim Acta. 1971 Aug;34(1):113-21. doi: 10.1016/0009-8981(71)90074-x.

4-Hydroxyphenylpyruvate dioxygenase from pig liver.

Methods Enzymol. 1987;142:132-8. doi: 10.1016/s0076-6879(87)42020-x.

4-Hydroxyphenylpyruvate dioxygenase from human liver.

Methods Enzymol. 1987;142:139-42. doi: 10.1016/s0076-6879(87)42021-1.

Primary structure and gene localization of human prolidase.人氨肽酶的一级结构和基因定位

J Biol Chem. 1989 Mar 15;264(8):4476-81.

J Inherit Metab Dis. 1990;13(5):780-2. doi: 10.1007/BF01799587.

Am J Hum Genet. 1991 Apr;48(4):704-9.

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