Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease
Author:
Affiliation:
1. Department of Biological Sciences Indian Institute of Science Education and Research Kolkata Mohanpur West Bengal India
2. Maulana Azad Medical College New Delhi New Delhi India
Funder
Science and Engineering Research Board
The Wellcome Trust DBT India Alliance
Publisher
Hindawi Limited
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24428
Reference71 articles.
1. Wilson Disease Mutation Pattern with Genotype-Phenotype Correlations from Western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations
2. Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
3. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules
4. Cell-Specific Trafficking Suggests a new role for Renal ATP7B in the Intracellular Copper Storage
5. Online immunocapture ICP-MS for the determination of the metalloprotein ceruloplasmin in human serum
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. ATPase Copper Transporting Beta (ATP7B) Is a Novel Target for Improving the Therapeutic Efficacy of Docetaxel by Disulfiram/Copper in Human Prostate Cancer;Molecular Cancer Therapeutics;2024-02-28
2. Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B;Journal of Cell Science;2023-11-30
3. Copper‐independent lysosomal localisation of the Wilson disease protein ATP7B;Traffic;2023-10-17
4. Wilson disease–causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells;Metallomics;2023-09
5. Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease;Clinical Genetics;2023-05-09
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3