一个次黄嘌呤-鸟嘌呤磷酸核糖转移酶部分缺乏家族中的同工酶 - Suppr

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超能文献

Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.

作者信息

Bakay B, Nyhan W L, Fawcett N, Kogut M D

出版信息

Biochem Genet. 1972 Aug;7(1):73-85. doi: 10.1007/BF00487011.

DOI:10.1007/BF00487011

PMID:5041886

Abstract

摘要

相似文献

Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.一个次黄嘌呤-鸟嘌呤磷酸核糖转移酶部分缺乏家族中的同工酶

Biochem Genet. 1972 Aug;7(1):73-85. doi: 10.1007/BF00487011.

Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.莱施-奈恩综合征：正常和突变型次黄嘌呤-鸟嘌呤磷酸核糖转移酶杂合子的红细胞中缺乏突变酶。

Biochem Genet. 1972 Feb;6(1):21-6. doi: 10.1007/BF00485961.

Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.正常酶对次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶变体的激活作用。

Proc Natl Acad Sci U S A. 1972 Sep;69(9):2523-6. doi: 10.1073/pnas.69.9.2523.

Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.莱施-奈恩综合征患者红细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的电泳特性

Biochem Genet. 1972 Apr;6(2):139-46. doi: 10.1007/BF00486398.

[Isoenzymes of purine phosphoribosyltransferases in erythrocytes of Lesch-Nyhan patients (author's transl)].

Z Klin Chem Klin Biochem. 1974 Jan;12(1):28-32.

Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.两名无关的莱施-奈恩综合征患者红细胞次黄嘌呤-鸟嘌呤磷酸核糖基转移酶生化特性的异质性。

Biochem Genet. 1973 Jun;9(2):197-202. doi: 10.1007/BF00487450.

Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.

Biochim Biophys Acta. 1973 Mar 19;299(2):273-82. doi: 10.1016/0005-2787(73)90350-x.

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症携带者检测的发根研究。

Clin Genet. 1974;5(5):449-56. doi: 10.1111/j.1399-0004.1974.tb01718.x.

Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.红细胞和白细胞中酶活性的差异。次黄嘌呤磷酸核糖基转移酶缺乏的一种变体，其酶不稳定。

J Clin Invest. 1973 Aug;52(8):2068-74. doi: 10.1172/JCI107391.

Resistance of erythrocyte adenine phosphoribosyltransferase in the Lesch-Nyhan syndrome to destabilization to heat by hypoxanthine.莱施-奈恩综合征中红细胞腺嘌呤磷酸核糖基转移酶对次黄嘌呤介导的热不稳定作用的抗性

Adv Exp Med Biol. 1973;41:215-20. doi: 10.1007/978-1-4684-3294-7_26.

引用本文的文献

An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.对莱施-奈恩突变杂合子女性中嘌呤类似物抗性淋巴细胞的计数分析。

Biochem Genet. 1980 Jun;18(5-6):529-47. doi: 10.1007/BF00484400.

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.患有莱施-奈恩突变杂合子的女性外周血淋巴细胞群体的镶嵌现象。

Biochem Genet. 1974 May;11(5):397-411. doi: 10.1007/BF00486413.

Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines.一系列对8-氮杂鸟嘌呤耐药的二倍体人淋巴母细胞系中嘌呤过度产生的表达。

Proc Natl Acad Sci U S A. 1974 Jul;71(7):2679-83. doi: 10.1073/pnas.71.7.2679.

J Clin Invest. 1973 Aug;52(8):2068-74. doi: 10.1172/JCI107391.

Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.正常酶对次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶变体的激活作用。

Proc Natl Acad Sci U S A. 1972 Sep;69(9):2523-6. doi: 10.1073/pnas.69.9.2523.

Human regulatory gene for inducible tyrosine aminotransferase in rat-human hybrids.大鼠 - 人类杂交细胞中诱导型酪氨酸转氨酶的人类调节基因。

Proc Natl Acad Sci U S A. 1973 Apr;70(4):1268-72. doi: 10.1073/pnas.70.4.1268.

Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。痛风患者中一种突变体的特征。

J Clin Invest. 1975 Nov;56(5):1239-49. doi: 10.1172/JCI108200.

Developmental changes in purine phosphoribosyltransferases in human and rat tissues.人类和大鼠组织中嘌呤磷酸核糖转移酶的发育变化。

Biochem J. 1976 Dec 15;160(3):565-76. doi: 10.1042/bj1600565.

Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：正常酶和突变酶杂合子外周红细胞中的镶嵌现象。

Biochem Genet. 1976 Aug;14(7-8):587-93. doi: 10.1007/BF00485837.

[Properties of hypoxanthineguanine-phosphoribosyltransferase (HGPRTase) in a gout patient with partial deficiency of this enzyme (author's transl)].

Klin Wochenschr. 1979 Jan 15;57(2):63-8. doi: 10.1007/BF01491336.

本文引用的文献

Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症杂合子携带者的嘌呤代谢

Science. 1969 Dec 19;166(3912):1533-5. doi: 10.1126/science.166.3912.1533.

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。

Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。

Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.

Inheritance of purine phosphoribosyltransferases in man.人类嘌呤磷酸核糖转移酶的遗传

Am J Hum Genet. 1969 Jan;21(1):61-70.

Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase.次黄嘌呤-鸟嘌呤磷酸核糖转移酶的动力学研究

J Biol Chem. 1968 May 25;243(10):2514-22.

Diagnostic test for congenital hyperuricemia with central nervous system dysfunction.伴有中枢神经系统功能障碍的先天性高尿酸血症的诊断测试。

J Lab Clin Med. 1968 Feb;71(2):247-53.

The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.通过圆盘凝胶电泳分离腺嘌呤和次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶同工酶。

Biochem Genet. 1971 Feb;5(1):81-90. doi: 10.1007/BF00485733.

Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.

Am J Med. 1970 Feb;48(2):148-61. doi: 10.1016/0002-9343(70)90111-7.

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.莱施-奈恩综合征杂合子红细胞中葡萄糖-6-磷酸脱氢酶的半合子表达。

Proc Natl Acad Sci U S A. 1970 Jan;65(1):214-8. doi: 10.1073/pnas.65.1.214.

Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.杂合人类细胞中X连锁高尿酸血症位点的单等位基因表达。

Proc Natl Acad Sci U S A. 1968 Jun;60(2):545-52. doi: 10.1073/pnas.60.2.545.

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