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。 - Suppr

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超能文献

Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.

作者信息

Richardson B J, Ryckman D L, Komarnicki L M, Hamerton J L

出版信息

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

DOI:10.1007/BF00487450

PMID:4726089

Abstract

摘要

相似文献

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.

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.

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.

Immunological studies of hypoxanthine-guanine phosphoribosyltransferase in Lesch-Nyhan syndrome.莱施-奈恩综合征中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的免疫学研究。

Adv Exp Med Biol. 1973;41:187-94. doi: 10.1007/978-1-4684-3294-7_22.

Hypoxanthine-guanine phosphoribosyl transferase deficiency. Our experience.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症。我们的经验。

Adv Exp Med Biol. 1973;41:271-9. doi: 10.1007/978-1-4684-3294-7_32.

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.

Age-induced changes in adenosine monophosphate: pyrophosphate phosphoribosyltransferase and inosine monophosphate: pyrophosphate phosphoribosyltransferase from normal and Lesch-Nyhan erythrocytes.正常红细胞和莱施-奈恩红细胞中，年龄诱导的磷酸核糖焦磷酸腺苷转移酶及磷酸核糖焦磷酸次黄嘌呤核苷转移酶的变化。

Biochemistry. 1974 Jun 4;13(12):2558-61. doi: 10.1021/bi00709a013.

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.

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency: effect of dietary purines on enzyme activity.次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGPRT）缺乏症：膳食嘌呤对酶活性的影响。

Adv Exp Med Biol. 1973;41:203-9. doi: 10.1007/978-1-4684-3294-7_24.

[Activity of erythrocyte purine phosphoribosyltransferases in Lesch-Nyhan syndrome].[莱施-奈恩综合征中红细胞嘌呤磷酸核糖基转移酶的活性]

Vopr Med Khim. 1981 Mar-Apr;27(2):215-20.

引用本文的文献

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.

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.

Hypoxanthine-guanine phosphoribosyl transferase deficiency.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症

Hum Genet. 1976 Feb 29;31(2):127-50. doi: 10.1007/BF00296142.

本文引用的文献

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.

Human hypoxanthine phosphoribosyltransferase. I. Purification, properties, and specificity.人次黄嘌呤磷酸核糖基转移酶。I. 纯化、性质及特异性

J Biol Chem. 1969 Mar 10;244(5):1263-70.

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.

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

Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease.次黄嘌呤单磷酸：焦磷酸磷酸核糖基转移酶的纯化，莱施-奈恩病中的催化失活酶

Proc Natl Acad Sci U S A. 1971 Jul;68(7):1461-4. doi: 10.1073/pnas.68.7.1461.

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.莱施-奈恩综合征：突变酶的动力学特性改变

Science. 1971 Feb 19;171(3972):689-91. doi: 10.1126/science.171.3972.689.

A specific enzyme defect in gout associated with overproduction of uric acid.痛风中与尿酸生成过多相关的一种特定酶缺陷。

Proc Natl Acad Sci U S A. 1967 Jun;57(6):1735-9. doi: 10.1073/pnas.57.6.1735.

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