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Abnormal property of human mutant hypoxanthine-guanine phosphoribosyltransferase: insensitivity of fibroblast enzyme to stabilization against freezing and thawing by 5-phosphoribosyl-1-pyrophosphate.

作者信息

Zoref E, Sperling O, de Vries A

出版信息

Eur J Clin Invest. 1974 Feb;4(1):43-6. doi: 10.1111/j.1365-2362.1974.tb00370.x.

DOI:10.1111/j.1365-2362.1974.tb00370.x
PMID:4362235
Abstract
摘要

相似文献

1
Abnormal property of human mutant hypoxanthine-guanine phosphoribosyltransferase: insensitivity of fibroblast enzyme to stabilization against freezing and thawing by 5-phosphoribosyl-1-pyrophosphate.人类突变型次黄嘌呤-鸟嘌呤磷酸核糖转移酶的异常特性：成纤维细胞酶对5-磷酸核糖-1-焦磷酸介导的冻融稳定作用不敏感。
Eur J Clin Invest. 1974 Feb;4(1):43-6. doi: 10.1111/j.1365-2362.1974.tb00370.x.
2
Stabilization by PRPP of cellular purine phosphoribosyltransferases against inactivation by freezing and thawing. Study of normal and hypoxanthine-guanine phosphoribosyltransferase deficient human fibroblasts.磷酸核糖焦磷酸（PRPP）对细胞嘌呤磷酸核糖基转移酶的稳定作用，使其免受冻融失活的影响。对正常及次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶缺陷的人成纤维细胞的研究。
Adv Exp Med Biol. 1973;41:15-8. doi: 10.1007/978-1-4684-3294-7_2.
3
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：莱施-奈恩综合征患者红细胞中突变酶的特征
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
4
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.莱施-奈恩综合征：行为表现减弱病例的生化特征
Enzyme. 1984;31(1):55-60.
5
Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症：该酶一种特定突变形式的动力学特性改变
Adv Exp Med Biol. 1973;41:167-75. doi: 10.1007/978-1-4684-3294-7_20.
6
Lesch-Nyhan mutation: the influence of population density on purine phosphoribosyltransferase activities and exogenous purine utilization in monolayer cultures of skin fibroblasts.
J Cell Physiol. 1972 Aug;80(1):33-40. doi: 10.1002/jcp.1040800105.
7
Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.莱施-奈恩综合征患者饮食诱导的次黄嘌呤-鸟嘌呤磷酸核糖基转移酶活性变化
J Clin Invest. 1973 Apr;52(4):970-3. doi: 10.1172/JCI107263.
8
Rapid determination of hypoxanthine-guanine-phosphoribosyl transferase in human fibroblasts and amniotic cells.
Humangenetik. 1975;27(4):323-8. doi: 10.1007/BF00278425.
9
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.
10
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.

引用本文的文献

1
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.与嘌呤过量生成和痛风相关的突变型反馈抗性磷酸核糖焦磷酸合成酶。培养成纤维细胞中的磷酸核糖焦磷酸和嘌呤代谢。
J Clin Invest. 1975 Nov;56(5):1093-9. doi: 10.1172/JCI108183.