Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-018-0445-8.pdf
Reference32 articles.
1. Suzuki K, Suzuki Y. Globoid cell leucodystrophy (Krabbe’s disease): deficiency of galactocerebroside β-galactosidase. Proc Natl Acad Sci USA. 1970;66:302–9.
2. Chen YQ, Rafi MA, de Gala G, Wenger DA. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet. 1993;2:1841–5.
3. Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, et al. Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem Biophys Res Commun. 1994;198:485–91.
4. Nagano S, Yamada T, Shinnoh N, Furuya H, Taniwaki T, Kira J. Expression and processing of recombinant human galactosylceramidase. Clin Chim Acta. 1998;276:53–61.
5. Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, et al. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. Gene. 2014;534:144–54.
Cited by 12 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. Identifying altered developmental pathways in human globoid cell leukodystrophy iPSCs-derived NSCs using transcriptome profiling;BMC Genomics;2023-04-19
2. Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells;Molecular Genetics and Metabolism Reports;2022-06
3. CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease;Frontiers in Molecular Neuroscience;2022-05-10
4. Galactocerebrosidase deficiency induces an increase in lactosylceramide content: A new hallmark of Krabbe disease?;The International Journal of Biochemistry & Cell Biology;2022-04
5. Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes;Stem Cell Reports;2021-06
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