Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng854z.pdf
Reference50 articles.
1. Emery, A.E. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul. Disord. 1, 19–29 (1991).
2. Lefebvre, S., Burglen, L., Frezal, J., Munnich, A. & Melki, J. The role of the SMN gene in proximal spinal muscular atrophy. Hum. Mol. Genet. 7, 1531–1536 (1998).
3. Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155–165 (1995).
4. Jablonka, S., Rossoll, W., Schrank, B. & Sendtner, M. The role of SMN in spinal muscular atrophy. J. Neurol. 247 (Suppl 1), I37–I42 (2000).
5. Liu, Q. & Dreyfuss, G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15, 3555–3565 (1996).
Cited by 624 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. Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1 interaction, with implication in spinal muscular atrophy: A molecular dynamics study;International Journal of Biological Macromolecules;2024-08
2. SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts;Frontiers in Genetics;2024-07-30
3. Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort;Gene Therapy;2024-06-05
4. A pipeline for the development and analysis of extracellular vesicle-based transcriptomic biomarkers in molecular diagnostics;Molecular Aspects of Medicine;2024-06
5. Unveiling the potential of antisense oligonucleotides: Mechanisms, therapies, and safety insights;Drug Development Research;2024-05-19
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