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Structural features of the phosphoribosyltransferases and their relationship to the human deficiency disorders of purine and pyrimidine metabolism.

作者信息

Musick W D

出版信息

CRC Crit Rev Biochem. 1981;11(1):1-34. doi: 10.3109/10409238109108698.

DOI:10.3109/10409238109108698
PMID:7030616
Abstract

Similarities in the physical and chemical properties of the phosphoribosyltransferase family of enzymes suggest that they may share common structural features as observed in other functionally related proteins. The unusually high incidence of structural gene mutations of these enzymes in man are associated with several metabolic diseases of purine and pyrimidine metabolism. It is proposed that these disorders are the consequence of structural mutations to an architectural domain common to all of the phosphoribosyltransferases.

摘要

相似文献

1
Structural features of the phosphoribosyltransferases and their relationship to the human deficiency disorders of purine and pyrimidine metabolism.
CRC Crit Rev Biochem. 1981;11(1):1-34. doi: 10.3109/10409238109108698.
2
A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases.磷酸核糖转移酶三级结构中可能存在的核苷酸结合结构域。
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Activities of amidophosphoribosyltransferase (EC2.4.2.14) and the purine phosphoribosyltransferases (EC2.4.2.7 and 2.4.2.8), and the phosphoribosylpyrophosphate content of rat central nervous system at different stages of development--their possible relationship to the neurological dysfunction in the Lesch-Nyhan syndrome.大鼠中枢神经系统在不同发育阶段的氨甲酰磷酸核糖转移酶（EC2.4.2.14）、嘌呤磷酸核糖转移酶（EC2.4.2.7和2.4.2.8）的活性以及磷酸核糖焦磷酸含量——它们与莱施-奈恩综合征神经功能障碍的可能关系。
J Neurol Sci. 1980 May;46(2):221-32. doi: 10.1016/0022-510x(80)90080-5.
8
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。
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Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients.嘌呤核苷磷酸化酶及次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺陷患者中S - 腺苷同型半胱氨酸水解酶缺乏的推测性解释。
J Clin Invest. 1981 Mar;67(3):696-701. doi: 10.1172/JCI110085.

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