An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia
Author:
Funder
National Natural Science Foundation of China
Program of Shanghai Academic Research Leader
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Cognitive Neuroscience,Neurology (clinical)
Link
https://link.springer.com/content/pdf/10.1186/s40035-023-00353-1.pdf
Reference10 articles.
1. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011;44(2):200–5.
2. Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, et al. Analysis of mutations in AARS2 in a series of CSF1R-negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. JAMA Neurol. 2016;73(12):1433–9.
3. Van Weehaeghe D, Van Schoor E, De Vocht J, Koole M, Attili B, Celen S, et al. TSPO versus P2X7 as a target for neuroinflammation: an in vitro and in vivo study. J Nucl Med. 2020;61(4):604–7.
4. Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, et al. Expanded phenotype of AARS1-related white matter disease. Genet Med. 2021;23:2352–9.
5. Sun L, Song Y, Blocquel D, Yang XL, Schimmel P. Two crystal structures reveal design for repurposing the C-Ala domain of human AlaRS. Proc Natl Acad Sci U S A. 2016;113(50):14300–5.
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
"全球学者库"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,当前全球学者库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 © 2019-2023 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