Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-19053-8.pdf
Reference50 articles.
1. Wang, H. & Eckel, R. H. What are lipoproteins doing in the brain? Trends Endocrinol. Metab. 25, 8–14 (2014).
2. Beffert, U., Stolt, P. C. & Herz, J. Functions of lipoprotein receptors in neurons. J. Lipid Res. 45, 403–9 (2004).
3. Boycott, K. M. et al. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol 24, 1310–1315 (2009).
4. Azmanov, D. N. et al. Challenges of diagnostic exome sequencing in an inbred founder population. Mol. Genet. Genomic Med. 1, 71–76 (2013).
5. Ali, B. R., Silhavy, J. L., Gleeson, M. J., Gleeson, J. G. & Al-Gazali, L. A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. BMC Med. Genet. 13, 80 (2012).
Cited by 11 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. Transcriptomic analysis of SEL1L and HRD1 knockout cell lines reveals multifaceted roles of SEL1L beyond the ER quality control;2024-06-12
2. GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model;Lipids in Health and Disease;2023-05-29
3. Genetic disruption of mammalian endoplasmic reticulum‐associated protein degradation: Human phenotypes and animal and cellular disease models;Traffic;2023-05-15
4. Cnpy3 mice reveal neuronal expression of Cnpy3 in the brain;Journal of Neuroscience Methods;2023-01
5. Lipid Dyshomeostasis and Inherited Cerebellar Ataxia;Molecular Neurobiology;2022-04-14
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