次黄嘌呤磷酸核糖基转移酶缺乏症：催化活性降低与免疫可检测酶蛋白水平降低的关联。
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
作者信息
Upchurch K S, Leyva A, Arnold W J, Holmes E W, Kelley W N
出版信息
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4142-6. doi: 10.1073/pnas.72.10.4142.
Abstract
In the present study hemolysates from fourteen patients with a genetically determined deficiency of hypoxanthine phosphoribosyltransferase (EC 2.4.2.8; IMP:pyrophosphate phosphoribosyltransferase) activity were examined immunologically for the presence of material that crossreacts with the normal enzyme. A quantitative assay for crossreacting material in enzyme-deficient hemolysates was based on the inhibition of the immunoprecipitation of the normal enzyme. As little as 3% of normal crossreacting material could be detected. One patient in this series was found to have a normal amount of crossreacting material, whereas the remainder had no detectable crossreacting protein. The lack of detectable crossreacting material in these patients raises the possibility that a defect in synthesis or degradation of enzyme protein may be present in many patients deficient in hypoxanthine phosphoribosyltransferase.
摘要
在本研究中，对14例因基因决定而次黄嘌呤磷酸核糖基转移酶（EC 2.4.2.8；IMP：焦磷酸磷酸核糖基转移酶）活性缺乏的患者的溶血产物进行了免疫学检查，以检测是否存在与正常酶发生交叉反应的物质。基于对正常酶免疫沉淀的抑制作用，对酶缺陷溶血产物中的交叉反应物质进行了定量测定。低至3%的正常交叉反应物质都能被检测到。该系列中有1例患者被发现具有正常量的交叉反应物质，而其余患者均未检测到交叉反应蛋白。这些患者中缺乏可检测到的交叉反应物质，这增加了一种可能性，即许多次黄嘌呤磷酸核糖基转移酶缺乏的患者可能存在酶蛋白合成或降解缺陷。
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Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.次黄嘌呤磷酸核糖基转移酶缺乏症：催化活性降低与免疫可检测酶蛋白水平降低的关联。
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4142-6. doi: 10.1073/pnas.72.10.4142.
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本文引用的文献
1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
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.
3
4
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症：正常、突变及杂合子培养的人皮肤成纤维细胞中的活性
Proc Natl Acad Sci U S A. 1970 Mar;65(3):577-84. doi: 10.1073/pnas.65.3.577.
5
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure.人次黄嘌呤-鸟嘌呤磷酸核糖转移酶。纯化及亚基结构。
J Biol Chem. 1971 Dec 10;246(23):7398-404.
6
Human hypoxanthine-guanine phosphoribosyltransferase: studies on the normal and mutant forms of the enzyme.
Fed Proc. 1973 Jun;32(6):1656-9.
7
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.
8
Selective degradation of abnormal proteins in mammalian tissue culture cells.哺乳动物组织培养细胞中异常蛋白质的选择性降解。
Proc Natl Acad Sci U S A. 1974 Dec;71(12):4732-6. doi: 10.1073/pnas.71.12.4732.
9
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10
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Exp Cell Res. 1972 Dec;75(2):401-9. doi: 10.1016/0014-4827(72)90446-6.
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