人线粒体乙酰乙酰辅酶A硫解酶cDNA的分子克隆及3-酮硫解酶缺乏症的分子分析 - Suppr

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超能文献

Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.

作者信息

Fukao T, Yamaguchi S, Nagasawa H, Kano M, Orii T, Fujiki Y, Osumi T, Hashimoto T

机构信息

Department of Paediatrics, Gifu University School of Medicine, Japan.

出版信息

J Inherit Metab Dis. 1990;13(5):757-60. doi: 10.1007/BF01799582.

DOI:10.1007/BF01799582

PMID:1978869

Abstract

摘要

相似文献

Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.人线粒体乙酰乙酰辅酶A硫解酶cDNA的分子克隆及3-酮硫解酶缺乏症的分子分析

J Inherit Metab Dis. 1990;13(5):757-60. doi: 10.1007/BF01799582.

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.编码人线粒体乙酰乙酰辅酶A硫解酶的互补DNA的分子克隆与序列分析以及对3-酮硫解酶缺乏症患者培养成纤维细胞中变异酶的研究。

J Clin Invest. 1990 Dec;86(6):2086-92. doi: 10.1172/JCI114946.

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.一名患有3-酮硫解酶缺乏症男孩的培养成纤维细胞中线粒体乙酰乙酰辅酶A硫解酶生物合成缺陷。

J Clin Invest. 1988 Mar;81(3):813-7. doi: 10.1172/JCI113388.

Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.

J Inherit Metab Dis. 1992;15(5):815-20. doi: 10.1007/BF01800027.

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.四名3-酮硫解酶缺乏症患者成纤维细胞中线粒体乙酰乙酰辅酶A硫解酶生物合成缺陷的异质性。

Pediatr Res. 1989 Aug;26(2):145-9. doi: 10.1203/00006450-198908000-00016.

Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.线粒体乙酰乙酰辅酶A硫解酶基因：在一名患有β-酮硫解酶缺乏症的白种人患者中发现一个新的68bp缺失，该缺失涉及内含子7的3'剪接位点，导致外显子8跳跃。

Hum Mutat. 1995;5(1):94-6. doi: 10.1002/humu.1380050113.

3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.3-酮硫解酶缺乏症：4例患者成纤维细胞中线粒体乙酰乙酰辅酶A硫解酶生物合成缺陷的异质性。

J Inherit Metab Dis. 1989;12(3):368-72. doi: 10.1007/BF01799244.

Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.

Hum Genet. 1992 Nov;90(3):208-10. doi: 10.1007/BF00220063.

Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.在两名瑞士CRM阴性β-酮硫解酶缺乏症患者中鉴定出线粒体乙酰乙酰辅酶A硫解酶基因的三个新的移码突变（83delAT、754insCT和435 + 1G至A）。

Hum Mutat. 1997;9(3):277-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#.

Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.对一名患有3-酮硫解酶缺乏症的日本男孩的成纤维细胞中的突变硫解酶蛋白进行进一步分析。

Tohoku J Exp Med. 1992 Jun;167(2):143-53. doi: 10.1620/tjem.167.143.

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Front Cell Dev Biol. 2020 May 26;8:335. doi: 10.3389/fcell.2020.00335. eCollection 2020.

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.对β-酮硫解酶（线粒体乙酰乙酰辅酶 A 硫解酶，T2）缺乏症的认识的最新进展。

J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5.

Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.线粒体2-甲基乙酰乙酰辅酶A硫解酶缺乏症：异亮氨酸和酮体代谢的先天性缺陷。

J Inherit Metab Dis. 1993;16(1):46-54. doi: 10.1007/BF00711314.

本文引用的文献

Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria.一名患有2-甲基乙酰乙酸尿症患者白细胞中β-酮硫解酶活性缺乏。

Clin Chim Acta. 1986 Mar 16;155(2):189-94. doi: 10.1016/0009-8981(86)90283-4.

Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.对一名患有3-酮硫解酶缺乏症患者的培养成纤维细胞进行的免疫化学研究。

J Inherit Metab Dis. 1988;11(3):345-7. doi: 10.1007/BF01800390.

J Clin Invest. 1988 Mar;81(3):813-7. doi: 10.1172/JCI113388.

Pediatr Res. 1989 Aug;26(2):145-9. doi: 10.1203/00006450-198908000-00016.

Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase.编码大鼠线粒体乙酰乙酰辅酶A硫解酶完整前体的cDNA的分子克隆及核苷酸序列

J Biochem. 1989 Aug;106(2):197-204. doi: 10.1093/oxfordjournals.jbchem.a122832.

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.采用酸性硫氰酸胍-苯酚-氯仿萃取法一步分离RNA的方法。

Anal Biochem. 1987 Apr;162(1):156-9. doi: 10.1006/abio.1987.9999.

A mild procedure for the rapid release of cytoplasmic enzymes from cultured animal cells.一种从培养的动物细胞中快速释放细胞质酶的温和方法。

Anal Biochem. 1979 May;95(1):270-4. doi: 10.1016/0003-2697(79)90216-1.

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