A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
作者信息
Kim B-E, Smith K, Petris M J
出版信息
J Med Genet. 2003 Apr;40(4):290-5. doi: 10.1136/jmg.40.4.290.
Abstract
摘要
相似文献
1
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.一种与功能性门克斯铜ATP酶转运缺陷相关的可通过铜治疗的门克斯病突变。
J Med Genet. 2003 Apr;40(4):290-5. doi: 10.1136/jmg.40.4.290.
2
3
A Golgi localization signal identified in the Menkes recombinant protein.在门克斯重组蛋白中鉴定出的一种高尔基体定位信号。
Hum Mol Genet. 1998 Aug;7(8):1245-52. doi: 10.1093/hmg/7.8.1245.
4
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.轻度及经铜治疗的经典门克斯病患者中，铜诱导的门克斯蛋白运输和定位存在缺陷。
Hum Mol Genet. 1999 Aug;8(8):1547-55. doi: 10.1093/hmg/8.8.1547.
5
Menkes disease mutations and response to early copper histidine treatment.门克斯病突变与早期铜组氨酸治疗反应
Nat Genet. 1996 May;13(1):21-2. doi: 10.1038/ng0596-21.
6
Copper transport and its alterations in Menkes and Wilson diseases.铜转运及其在门克斯病和威尔逊病中的改变。
Biochim Biophys Acta. 1997 Feb 27;1360(1):3-16. doi: 10.1016/s0925-4439(96)00064-6.
7
Menkes disease.门克斯病
Cell Mol Life Sci. 2008 Jan;65(1):89-91. doi: 10.1007/s00018-007-7439-6.
8
Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.CPC 结构域包含 6 跨膜域的突变影响 ATP7A 蛋白在镶嵌突变鼠（Menkes 病的动物模型）中的细胞内定位、运输和铜转运效率。
Metallomics. 2012 Feb;4(2):197-204. doi: 10.1039/c1mt00134e. Epub 2011 Nov 16.
9
The Menkes copper transporter is required for the activation of tyrosinase.门克斯铜转运蛋白是酪氨酸酶激活所必需的。
Hum Mol Genet. 2000 Nov 22;9(19):2845-51. doi: 10.1093/hmg/9.19.2845.
10
Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.门克斯铜转运P型ATP酶（ATP7A）：生化与细胞生物学特性及其在门克斯病中的作用
J Bioenerg Biomembr. 2002 Oct;34(5):363-71. doi: 10.1023/a:1021250003104.
引用本文的文献
1
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.17例中国门克斯病患者的表型和突变谱
Neurol Sci. 2025 Jan;46(1):437-444. doi: 10.1007/s10072-024-07676-5. Epub 2024 Jul 6.
2
Copper homeostasis and the ubiquitin proteasome system.铜稳态与泛素蛋白酶体系统。
Metallomics. 2023 Mar 6;15(3). doi: 10.1093/mtomcs/mfad010.
3
Copper metabolism as a unique vulnerability in cancer.铜代谢作为癌症的独特脆弱性。
Biochim Biophys Acta Mol Cell Res. 2021 Feb;1868(2):118893. doi: 10.1016/j.bbamcr.2020.118893. Epub 2020 Oct 20.
4
Trafficking mechanisms of P-type ATPase copper transporters.P 型 ATP 酶铜转运蛋白的转运机制。
Curr Opin Cell Biol. 2019 Aug;59:24-33. doi: 10.1016/j.ceb.2019.02.009. Epub 2019 Mar 29.
5
The Endolysosomal System and Proteostasis: From Development to Degeneration.内溶酶体系统与蛋白质稳态：从发育到退化。
J Neurosci. 2018 Oct 31;38(44):9364-9374. doi: 10.1523/JNEUROSCI.1665-18.2018.
6
Organ-specific regulation of ATP7A abundance is coordinated with systemic copper homeostasis.组织特异性调节 ATP7A 的丰度与系统性铜稳态相协调。
Sci Rep. 2017 Sep 20;7(1):12001. doi: 10.1038/s41598-017-11961-z.
7
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.门克斯病中神经退行性变和神经发育缺陷的分子基础。
Neurobiol Dis. 2015 Sep;81:154-61. doi: 10.1016/j.nbd.2014.12.024. Epub 2015 Jan 10.
8
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.门克斯病患者铜-组氨酸治疗的新突变及临床结果
Metab Brain Dis. 2015 Feb;30(1):75-81. doi: 10.1007/s11011-014-9569-5. Epub 2014 Jun 13.
9
Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.ATP13A2及相关P型转运ATP酶在帕金森病和其他神经疾病中的细胞功能及病理作用
Front Mol Neurosci. 2014 May 27;7:48. doi: 10.3389/fnmol.2014.00048. eCollection 2014.
10
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.一个威尔逊病突变的独特表型揭示了铜转运体 ATP7B 中的一个新的转运决定因素。
Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):E1364-73. doi: 10.1073/pnas.1314161111. Epub 2014 Mar 24.
Zotero 插件