Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family
Author:
Affiliation:
1. The Key Laboratory of Experimental Teratology; Ministry of Education and Department of Genetics; Shandong University School of Medicine; Jinan Shandong 250012 China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22732/fullpdf
Reference31 articles.
1. Early defect of transforming growth factor beta1 formation in Huntington's disease;Battaglia;J Cell Mol Med,2011
2. The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases;Bayat;Curr Opin Neurobiol,2011
3. Cellular pathways of hereditary spastic paraplegia;Blackstone;Annu Rev Neurosci,2012
4. Hereditary spastic paraplegias: membrane traffic and the motor pathway;Blackstone;Nat Rev Neurosci,2011
5. Modeling spinal muscular atrophy in Drosophila;Chang;PLoS One,2008
Cited by 17 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. A single base pair duplication in the SLC33A1 gene is associated with fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep;Animal Genetics;2024-06-23
2. Diving deep: zebrafish models in motor neuron degeneration research;Frontiers in Neuroscience;2024-06-20
3. A single base pair duplication inSLC33A1gene causes fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep;2023-03-13
4. Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling;Zoological Research;2023
5. Development of a high-throughput tailored imaging method in zebrafish to understand and treat neuromuscular diseases;Frontiers in Molecular Neuroscience;2022-09-20
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