相似文献
1
Menkes disease.
Cell Mol Life Sci. 2008 Jan;65(1):89-91. doi: 10.1007/s00018-007-7439-6.
2
Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.
J Bioenerg Biomembr. 2002 Oct;34(5):363-71. doi: 10.1023/a:1021250003104.
3
Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.
J Med Genet. 2007 Oct;44(10):641-6. doi: 10.1136/jmg.2007.049627. Epub 2007 May 4.
4
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.
Metallomics. 2012 Feb;4(2):197-204. doi: 10.1039/c1mt00134e. Epub 2011 Nov 16.
5
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
J Med Genet. 2003 Apr;40(4):290-5. doi: 10.1136/jmg.40.4.290.
6
Copper transporting P-type ATPases and human disease.
J Bioenerg Biomembr. 2002 Oct;34(5):333-8. doi: 10.1023/a:1021293818125.
7
A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease.
Phys Chem Chem Phys. 2010 Oct 7;12(37):11390-7. doi: 10.1039/c003568h. Epub 2010 Aug 16.
8
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.
J Biol Chem. 2016 Aug 5;291(32):16644-58. doi: 10.1074/jbc.M116.727248. Epub 2016 May 16.
9
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
Ned Tijdschr Geneeskd. 2007 Oct 13;151(41):2266-70.
10
[From gene to disease: copper-transporting P ATPases alteration].
Pathol Biol (Paris). 2009 May;57(3):272-9. doi: 10.1016/j.patbio.2008.09.004. Epub 2008 Nov 28.
引用本文的文献
1
The molecular mechanism and therapeutic landscape of copper and cuproptosis in cancer.
Signal Transduct Target Ther. 2025 May 9;10(1):149. doi: 10.1038/s41392-025-02192-0.
2
Elucidating the evolving role of cuproptosis in breast cancer progression.
Int J Biol Sci. 2024 Sep 9;20(12):4872-4887. doi: 10.7150/ijbs.98806. eCollection 2024.
3
Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.
Neurol Sci. 2025 Jan;46(1):437-444. doi: 10.1007/s10072-024-07676-5. Epub 2024 Jul 6.
4
Insights Into the Role of Copper in Neurodegenerative Diseases and the Therapeutic Potential of Natural Compounds.
Curr Neuropharmacol. 2024;22(10):1650-1671. doi: 10.2174/1570159X22666231103085859.
5
Construction of an optical sensor for copper determination in environmental, food, and biological samples based on the covalently immobilized 2-(2-benzothiazolylazo)-3-hydroxyphenol in agarose.
RSC Adv. 2023 Aug 18;13(35):24777-24788. doi: 10.1039/d3ra04249a. eCollection 2023 Aug 11.
6
Copper in cancer: from limiting nutrient to therapeutic target.
Front Oncol. 2023 Jun 23;13:1209156. doi: 10.3389/fonc.2023.1209156. eCollection 2023.
7
Identification of cuproptosis-related biomarkers in dilated cardiomyopathy and potential therapeutic prediction of herbal medicines.
Front Mol Biosci. 2023 Apr 24;10:1154920. doi: 10.3389/fmolb.2023.1154920. eCollection 2023.
8
Regulatory roles of copper metabolism and cuproptosis in human cancers.
Front Oncol. 2023 Mar 23;13:1123420. doi: 10.3389/fonc.2023.1123420. eCollection 2023.
9
Pyridoxal Derived AIEgen for Fluorescence Turn-off Sensing of Cu and Fe Ions and Fluorescence Imaging of Latent Fingerprints.
J Fluoresc. 2023 Mar;33(2):601-611. doi: 10.1007/s10895-022-03109-8. Epub 2022 Dec 5.
10
Synthesis and Characterization of Newly Designed and Highly Solvatochromic Double Squaraine Dye for Sensitive and Selective Recognition towards Cu.
Molecules. 2022 Oct 4;27(19):6578. doi: 10.3390/molecules27196578.
Zotero 插件