• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.与嘌呤合成加速相关的次黄嘌呤-鸟嘌呤磷酸核糖转移酶变体
J Clin Invest. 1973 Sep;52(9):2234-40. doi: 10.1172/JCI107409.
2
Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase.正常和突变型次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶在成纤维细胞中对次黄嘌呤的转运
Biochem Med. 1973 Oct;8(2):309-23. doi: 10.1016/0006-2944(73)90035-5.
3
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.
4
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.
5
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.
6
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.痛风和嘌呤过度产生患者成纤维细胞中磷酸核糖焦磷酸和5-磷酸核糖的浓度及生成模式。
J Clin Invest. 1976 Feb;57(2):308-18. doi: 10.1172/JCI108282.
7
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.
8
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的谱系
Q J Med. 1973 Apr;42(166):423-40.
9
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.一名具有莱施-奈恩综合征特征的聪明、未致残患者中一种次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）变体对嘌呤的利用情况。
Pediatr Res. 1979 Dec;13(12):1365-70. doi: 10.1203/00006450-197912000-00013.
10
Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.莱施-奈恩综合征患者成纤维细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的研究。遗传异质性的证据。
J Biol Chem. 1971 May 10;246(9):2953-8.

引用本文的文献

1
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.一个家族中 7 名低嘌呤核苷酸磷酸核糖转移酶缺乏症患者的表型变异。
Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.
2
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.神经遗传学中的基因型-表型相关性：作为模型疾病的莱施-尼汉病。
Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22.
3
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase with reduced affinity for PP-ribose-P in four related males with gout.四名痛风相关男性中次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏，对磷酸核糖焦磷酸（PP - ribose - P）的亲和力降低。
Hum Genet. 1984;67(1):18-22. doi: 10.1007/BF00270552.
4
Intracellular activity of HPRT Cape Town: purine uptake and growth of cultured cells in selective media.次黄嘌呤磷酸核糖转移酶（HPRT）开普敦株的细胞内活性：嘌呤摄取及在选择性培养基中培养细胞的生长
J Inherit Metab Dis. 1985;8(4):198-203. doi: 10.1007/BF01805435.
5
Biochemical genetics of HPRT Cape Town: is the defect in the HPRT gene?次黄嘌呤磷酸核糖基转移酶（HPRT）的开普敦生化遗传学：HPRT基因存在缺陷吗？
J Inherit Metab Dis. 1988;11(1):114-22. doi: 10.1007/BF01800061.
6
Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.三名痛风患者兄弟中的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症：一种变体HPRTEdinburgh的特征，该变体具有改变的等电点、增加的热不稳定性和正常水平的信使核糖核酸。
J Inherit Metab Dis. 1989;12(4):390-402. doi: 10.1007/BF01802034.
7
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.
8
Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.X连锁高尿酸血症患者完整成纤维细胞中的次黄嘌呤磷酸核糖基转移酶活性
J Clin Invest. 1976 Jun;57(6):1600-5. doi: 10.1172/JCI108430.

本文引用的文献

1
Diploid azaguanine-resistant mutants of cultured human fibroblasts.培养的人成纤维细胞的二倍体氮杂鸟嘌呤抗性突变体。
Science. 1970 Jul 31;169(3944):482-5. doi: 10.1126/science.169.3944.482.
2
The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism.巯嘌呤（依木兰）对嘌呤代谢临床紊乱中嘌呤合成的影响。
J Clin Invest. 1967 Sep;46(9):1518-29. doi: 10.1172/JCI105643.
3
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.
4
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.
5
PURINE NUCLEOTIDE PYROPHOSPHORYLASES IN 6-MERCAPTOPURINE-SENSITIVE AND -RESISTANT HUMAN LEUKEMIAS.6-巯基嘌呤敏感和耐药的人类白血病中的嘌呤核苷酸焦磷酸化酶
Cancer Res. 1964 Feb;24:261-7.
6
A new supporting medium for preparative electrophoresis.一种用于制备电泳的新型支持介质。
Scand J Clin Lab Invest. 1960;12:33-7.
7
The action of normal and atypical cholinesterase of human serum upon a series of esters of choline.人血清中正常及非典型胆碱酯酶对一系列胆碱酯的作用。
Can J Biochem Physiol. 1960 Jun;38:545-51.
8
A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers.一种检测人血清胆碱酯酶非典型形式的方法；地布卡因值的测定。
Can J Biochem Physiol. 1957 Jun;35(6):339-46. doi: 10.1139/y57-041.
9
Biochemical evidence for a distinct type of primary gout.原发性痛风一种独特类型的生化证据。
Nature. 1967 Mar 18;213(5081):1122-3. doi: 10.1038/2131122b0.
10
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.

与嘌呤合成加速相关的次黄嘌呤-鸟嘌呤磷酸核糖转移酶变体

Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.

作者信息

Benke P J, Herrick N, Hebert A

出版信息

J Clin Invest. 1973 Sep;52(9):2234-40. doi: 10.1172/JCI107409.

DOI:10.1172/JCI107409
PMID:4353774
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC333025/
Abstract

We have previously described a 14-yr-old boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high pH, and activity at standard substrate levels. In the present report an abnormal HPRT enzyme was demonstrated by enzyme kinetic study with phosphoribosylpyrophosphate (PRPP) as the variable substrate and inhibitory studies with sodium fluoride. Apparently normal HPRT activity in a patient with hyperuricemia and gout does not exclude a functionally significant HPRT mutation.

摘要

我们之前描述过一名14岁男孩，他患有高尿酸血症、肾衰竭，体内外对嘌呤类似物均有加速嘌呤生成的抵抗性。该患者的红细胞次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）热稳定性、高pH电泳及标准底物水平下的活性均正常。在本报告中，通过以磷酸核糖焦磷酸（PRPP）作为可变底物的酶动力学研究和用氟化钠进行的抑制研究，证实了一种异常的HPRT酶。高尿酸血症和痛风患者中看似正常的HPRT活性并不排除功能上有显著意义的HPRT突变。