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Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model.

作者信息

Ohta Y, Shiraishi N, Nishikimi M

机构信息

Department of Biochemistry, Wakayama Medical College, Japan.

出版信息

Biochem Mol Biol Int. 1997 Nov;43(4):913-8. doi: 10.1080/15216549700204721.

DOI:10.1080/15216549700204721
PMID:9385451
Abstract

We have investigated the genetic defect of the Cu-ATPase gene (Atp7a) in the macular mouse, a genetic model of classical Menkes disease. Northern blot analysis showed that its placenta and kidney possess a normal amount of the Cu-ATPase mRNA of the normal size; sequencing analysis revealed two missense mutations, His674Arg and Ser1381 Pro, in a PCR-amplified cDNA for mutant Cu-ATPase. The latter mutation was suspected to affect the function of the ATPase, because it lies in the transmembrane segment that is thought to form a channel for the transportation of copper ions.

摘要

相似文献

1
Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model.
Biochem Mol Biol Int. 1997 Nov;43(4):913-8. doi: 10.1080/15216549700204721.
2
Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.多个编码门克斯基因的转录本：门克斯信使核糖核酸可变剪接的证据。
Biochem J. 1998 Aug 15;334 ( Pt 1)(Pt 1):71-7. doi: 10.1042/bj3340071.
3
Copper efflux from murine microvascular cells requires expression of the menkes disease Cu-ATPase.小鼠微血管细胞中的铜外流需要门克斯病铜 - ATP酶的表达。
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Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.门克斯病黄斑小鼠模型中斑驳基因的突变分析与表达
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A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.黄斑小鼠铜转运P型ATP酶基因中的丝氨酸到脯氨酸突变。
Mamm Genome. 1997 Jun;8(6):407-10. doi: 10.1007/s003359900457.
6
Multiple forms of the Menkes Cu-ATPase.多种形式的门克斯铜 - ATP酶。
Adv Exp Med Biol. 1999;448:39-51. doi: 10.1007/978-1-4615-4859-1_4.
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Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model mice.门克斯基因在小鼠大脑中的表达定位；及其与门克斯模型小鼠神经学表现的关联。
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8
A Menkes P-type ATPase involved in copper homeostasis in the central nervous system of the rat.一种参与大鼠中枢神经系统铜稳态的门克斯P型ATP酶。
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Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse.斑驳小鼠Atp7a基因启动子区域的缺失。
Nat Genet. 1997 Jul;16(3):224-5. doi: 10.1038/ng0797-224.
10
Sequence of a Menkes-type Cu-transporting ATPase from rat C6 glioma cells: comparison of the rat protein with other mammalian Cu-transporting ATPases.大鼠C6胶质瘤细胞中门克斯型铜转运ATP酶的序列：大鼠蛋白与其他哺乳动物铜转运ATP酶的比较。
Mol Cell Biochem. 1998 Apr;181(1-2):49-61. doi: 10.1023/a:1006896612272.

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2
Menkes disease.Menkes 病。
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