• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Menkes disease mutations and response to early copper histidine treatment.

作者信息

Kaler S G

出版信息

Nat Genet. 1996 May;13(1):21-2. doi: 10.1038/ng0596-21.

DOI:10.1038/ng0596-21
PMID:8673098
Abstract
摘要

相似文献

1
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.
2
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.子宫内铜治疗 Menkes 病伴严重 ATP7A 突变。
Mol Genet Metab. 2012 Sep;107(1-2):222-8. doi: 10.1016/j.ymgme.2012.05.008. Epub 2012 May 18.
3
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.
4
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.一名患有严重门克斯病的幼儿中的截短型新生点突变
Pediatr Neonatol. 2017 Feb;58(1):89-92. doi: 10.1016/j.pedneo.2014.05.008. Epub 2014 Nov 14.
5
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.门克斯病:新生儿期分子分析诊断的重要性。
Rev Assoc Med Bras (1992). 2015 Sep-Oct;61(5):407-10. doi: 10.1590/1806-9282.61.05.407.
6
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.ATP7A 基因突变导致 T1048I,引起不典型 Menkes 病。
BMC Pediatr. 2012 Sep 19;12:150. doi: 10.1186/1471-2431-12-150.
7
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.
8
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.与包含小框内缺失的突变转录本相关的门克斯病早期铜治疗成功。
Biochem Mol Med. 1996 Feb;57(1):37-46. doi: 10.1006/bmme.1996.0007.
9
[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].门克斯病的临床表现因患者的基因型以及开始注射组氨酸铜治疗的时间而异。
No To Hattatsu. 2014 May;46(3):227-8.
10
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.

引用本文的文献

1
Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing.通过载脂蛋白B mRNA编辑酶催化多肽1(APOBEC1)介导的RNA编辑恢复黄斑小鼠成纤维细胞中的遗传密码
Biomolecules. 2025 Jan 16;15(1):136. doi: 10.3390/biom15010136.
2
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.脑脊液导向的rAAV9-rsATP7A联合皮下注射组氨酸铜可提高门克斯病小鼠模型的生存率和改善预后。
Mol Ther Methods Clin Dev. 2018 Jul 9;10:165-178. doi: 10.1016/j.omtm.2018.07.002. eCollection 2018 Sep 21.
3
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
在25个意大利家庭组成的队列中发现了13种ATP7A的新型潜在突变。
Metab Brain Dis. 2017 Aug;32(4):1173-1183. doi: 10.1007/s11011-017-0010-8. Epub 2017 Apr 28.
4
Menkes disease: what a multidisciplinary approach can do.门克斯病:多学科方法能发挥的作用。
J Multidiscip Healthc. 2016 Aug 17;9:371-85. doi: 10.2147/JMDH.S93454. eCollection 2016.
5
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.外显子1-7的串联重复既不损害ATP7A表达,也不导致门克斯病表型。
JIMD Rep. 2015;20:57-63. doi: 10.1007/8904_2014_391. Epub 2015 Feb 1.
6
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.经典型门克斯病的神经发育和大脑生长受开始铜治疗时的年龄和症状学影响。
J Trace Elem Med Biol. 2014 Oct;28(4):427-30. doi: 10.1016/j.jtemb.2014.08.008. Epub 2014 Aug 28.
7
Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.受铜依赖性酶多巴胺-β-羟化酶影响的儿茶酚胺代谢产物为门克斯病的早期诊断和病毒介导的ATP7A基因治疗提供了敏感的生物标志物。
Adv Pharmacol. 2013;68:223-33. doi: 10.1016/B978-0-12-411512-5.00011-7.
8
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.子宫内铜治疗 Menkes 病伴严重 ATP7A 突变。
Mol Genet Metab. 2012 Sep;107(1-2):222-8. doi: 10.1016/j.ymgme.2012.05.008. Epub 2012 May 18.
9
ATP7A-related copper transport diseases-emerging concepts and future trends.ATP7A 相关铜转运疾病——新出现的概念和未来趋势。
Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180.
10
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.早期诊断和治疗 Menkes 病的癫痫分子相关性。
J Inherit Metab Dis. 2010 Oct;33(5):583-9. doi: 10.1007/s10545-010-9118-2. Epub 2010 Jul 21.