Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein
Author:
Funder
Seventh Framework Programme
Universität Köln
Deutsche Forschungsgemeinschaft
Publisher
Frontiers Media SA
Subject
General Neuroscience
Reference73 articles.
1. Congenital autosomal dominant distal spinal muscular atrophy;Adams;Neuromuscul. Disord.,1998
2. The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy;Bansagi;Brain.,2015
3. Golgins in the structure and dynamics of the Golgi apparatus;Barr;Curr. Opin. Cell Biol.,2003
4. Biophysical analysis of the interaction of Rab6a GTPase with its effector domains;Bergbrede;J. Biol. Chem.,2009
5. RabGEFs are a major determinant for specific Rab membrane targeting;Blümer;J. Cell Biol.,2013
Cited by 37 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. The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways;Genes;2023-11-17
2. Expanding the phenotype of dync1h1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (sma-led) and upper motor neuron signs;The Turkish Journal of Pediatrics;2023
3. Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2 -knockdown mice;Proceedings of the National Academy of Sciences;2022-07-18
4. Coil-to-α-helix transition at the Nup358-BicD2 interface activates BicD2 for dynein recruitment;eLife;2022-03-01
5. Maternal and neonatal one-carbon metabolites and the epigenome-wide infant response;The Journal of Nutritional Biochemistry;2022-03
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