Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-33449-0.pdf
Reference35 articles.
1. Jalanko, A. & Braulke, T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta 1793, 697–709, https://doi.org/10.1016/j.bbamcr.2008.11.004 (2009).
2. Sleat, D. E. et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277, 1802–1805 (1997).
3. Lin, L., Sohar, I., Lackland, H. & Lobel, P. The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH. J Biol Chem 276, 2249–2255, https://doi.org/10.1074/jbc.M008562200 (2001).
4. Rawlings, N. D. & Barrett, A. J. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1429, 496–500 (1999).
5. Ezaki, J., Takeda-Ezaki, M., Oda, K. & Kominami, E. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis. Biochem Biophys Res Commun 268, 904–908, https://doi.org/10.1006/bbrc.2000.2207 (2000).
Cited by 21 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. CLN3 deficiency leads to neurological and metabolic perturbations during early development;Life Science Alliance;2024-01-09
2. An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism;Molecular Genetics and Metabolism;2024-01
3. Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses;Neurobiology of Disease;2023-12
4. Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease;Scientific Reports;2023-10-29
5. Metal mixture and osteoporosis risk: Insights from plasma metabolite profiling;Ecotoxicology and Environmental Safety;2023-09
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