Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference62 articles.
1. Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2;Lassuthova;Am. J. Hum. Genet.,2018
2. ATP1A2 mutations in migraine: seeing through the facets of an ion pump onto the neurobiology of disease;Friedrich;Front. Physiol.,2016
3. Revising rapid-onset dystonia-parkinsonism: broadening indications for ATP1A3 testing;Haq;Mov. Disord.,2019
4. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation;Dard;Dev. Med. Child. Neurol.,2015
5. Fever-induced paroxysmal weakness and encephalopathy, a new phenotype of ATP1A3 mutation;Yano;Pediatr. Neurol.,2017
Cited by 22 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. In Silicostudies provide new structural insights intotrans-dimerization of β1and β2subunits of the Na+,K+-ATPase;2024-08-16
2. Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase:Atp1a3tm1Ling/+andAtp1a3+/D801Y;eneuro;2024-08
3. In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism;Frontiers in Neuroscience;2024-07-31
4. Na,K-ATPase Expression Can Be Limited Post-Transcriptionally: A Test of the Role of the Beta Subunit, and a Review of Evidence;International Journal of Molecular Sciences;2024-07-06
5. ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress;Disease Models & Mechanisms;2024-06-01
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