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Genetic studies of human erythrocyte inosine triphosphatase.

作者信息

Vanderheiden B S

出版信息

Biochem Genet. 1969 Jun;3(3):289-97. doi: 10.1007/BF00521144.

DOI:10.1007/BF00521144
PMID:4376397
Abstract
摘要

相似文献

1
Genetic studies of human erythrocyte inosine triphosphatase.人类红细胞肌苷三磷酸酶的遗传学研究。
Biochem Genet. 1969 Jun;3(3):289-97. doi: 10.1007/BF00521144.
2
3':5'-cyclic nucleotide phosphodiesterases in rat tissues.大鼠组织中的3':5'-环核苷酸磷酸二酯酶
Eur J Biochem. 1972 Jun 23;28(1):30-7. doi: 10.1111/j.1432-1033.1972.tb01880.x.
3
Properties of erythrocyte purine phosphoribosyltransferases in partial hypoxanthine-guanine phosphoribosyltransferase deficiency.部分次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏时红细胞嘌呤磷酸核糖转移酶的特性
Adv Exp Med Biol. 1973;41:211-3. doi: 10.1007/978-1-4684-3294-7_25.
4
Purine metabolism in intact erythrocytes from controls and HG-PRT deficient individuals.
Adv Exp Med Biol. 1973;41:223-7. doi: 10.1007/978-1-4684-3294-7_27.
5
Phosphodiesterase activity of rat and human adipose tissue.大鼠和人体脂肪组织的磷酸二酯酶活性
J Lab Clin Med. 1972 Apr;79(4):598-610.
6
Studies on adrenocortical carcinoma of rat cyclic nucleotide phosphodiesterase activities.
Cancer Res. 1972 Aug;32(8):1734-6.
7
Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome.莱施-奈恩综合征中的肌苷酸脱氢酶活性。
J Clin Invest. 1972 Jun;51(6):1398-404. doi: 10.1172/JCI106935.
8
Adenosine deaminase: demonstration of a "silent" gene associated with combined immunodeficiency disease.腺苷脱氨酶：与联合免疫缺陷病相关的“沉默”基因的证明。
Am J Hum Genet. 1974 Jan;26(1):103-7.
9
Hypoxanthine-guanine phosphoribosyltransferase and deutan colour blindness: the relative positions of their loci on the X-chromosome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶与绿色盲：它们在X染色体上基因座的相对位置
Adv Exp Med Biol. 1973;41:281-3. doi: 10.1007/978-1-4684-3294-7_33.
10
Decreased S-adenosylhomocysteine hydrolase in inborn errors of purine metabolism.嘌呤代谢先天性缺陷中S-腺苷同型半胱氨酸水解酶减少。
J Lab Clin Med. 1980 Jul;96(1):141-7.

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Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.肌苷三磷酸焦磷酸酶（ITPase）：功能、突变、多态性及其对癌症治疗的影响。
Cells. 2022 Jan 24;11(3):384. doi: 10.3390/cells11030384.
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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.ITPase 缺乏症导致马索夫尔样综合征伴致死性婴儿扩张型心肌病。

本文引用的文献

1
DISTRIBUTION OF NUCLEOSIDE TRIPHOSPHATASES IN HUMAN ERYTHROCYTES.
Biochim Biophys Acta. 1964 Jul 8;89:158-61. doi: 10.1016/0926-6569(64)90112-9.
2
SEPARATION, IDENTIFICATION, AND QUANTITATIVE DETERMINATION OF P 32-LABELED PHOSPHATE ESTERS FROM ERYTHROCYTES.红细胞中P32标记的磷酸酯的分离、鉴定和定量测定
Anal Biochem. 1964 May;8:1-19. doi: 10.1016/0003-2697(64)90163-0.
3
DETERMINATION OF INORGANIC ORTHOPHOSPHATE IN THE PRESENCE OF ADENOSINE TRIPHOSPHATE: A CRITIQUE.在三磷酸腺苷存在的情况下对无机正磷酸盐的测定：一篇评论
PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar.
4
A disease spectrum for ITPA variation: advances in biochemical and clinical research.ITPA变异的疾病谱：生化与临床研究进展
J Biomed Sci. 2016 Oct 22;23(1):73. doi: 10.1186/s12929-016-0291-y.
5
Chromosome localization of the genes for ENO1, HK1, ADK, ACP2, MPI, ITPA, ACON1 and α-GAL in the American mink (Mustela vison).美洲水貂（Mustela vison）ENO1、HK1、ADK、ACP2、MPI、ITPA、ACON1 和 α-GAL 基因的染色体定位。
Theor Appl Genet. 1983 Nov;67(1):59-65. doi: 10.1007/BF00303923.
6
ITPA (inosine triphosphate pyrophosphatase): from surveillance of nucleotide pools to human disease and pharmacogenetics.ITPA（肌苷三磷酸焦磷酸酶）：从核苷酸池的监测到人类疾病和药物遗传学。
Mutat Res. 2013 Oct-Dec;753(2):131-146. doi: 10.1016/j.mrrev.2013.08.001. Epub 2013 Aug 19.
7
Anemia and thrombocytosis induced by ribavirin monotherapy in patients with chronic hepatitis C.利巴韦林单药治疗慢性丙型肝炎患者引起的贫血和血小板增多症。
J Gastroenterol. 2012 Nov;47(11):1228-37. doi: 10.1007/s00535-012-0579-y. Epub 2012 Mar 30.
8
Erythrocyte inosine triphosphatase activity is decreased in HIV-seropositive individuals.HIV 阳性个体的红细胞肌苷三磷酸酶活性降低。
PLoS One. 2012;7(1):e30175. doi: 10.1371/journal.pone.0030175. Epub 2012 Jan 17.
9
Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia.肌苷三磷酸焦磷酸酶的基因多态性是急性淋巴细胞白血病治疗期间巯嘌呤代谢及毒性的一个决定因素。
Clin Pharmacol Ther. 2009 Feb;85(2):164-72. doi: 10.1038/clpt.2008.154. Epub 2008 Aug 6.
10
Biochemical characterization of a novel hypoxanthine/xanthine dNTP pyrophosphatase from Methanococcus jannaschii.来自詹氏甲烷球菌的一种新型次黄嘌呤/黄嘌呤dNTP焦磷酸酶的生化特性
Nucleic Acids Res. 2001 Jul 15;29(14):3099-107. doi: 10.1093/nar/29.14.3099.
Anal Biochem. 1964 Apr;7:383-6. doi: 10.1016/0003-2697(64)90149-6.
4
Preparation of 32-P-labeled nucleotides.
Anal Biochem. 1965 Dec;13(3):496-504. doi: 10.1016/0003-2697(65)90343-x.
5
Phosphate esters of human erythrocytes: synthesis of ITP-14C from inosine-8-14C.人红细胞的磷酸酯：由肌苷 -8-¹⁴C合成肌苷三磷酸 -¹⁴C
Nature. 1967 Dec 9;216(5119):1036-7. doi: 10.1038/2161036a0.