CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/14/24/3775/17242115/ddi391.pdf
Reference21 articles.
1. Kalscheuer, V.M., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kubart, S., Menzel, C., Hoeltzenbein, M., Tommerup, N., Eyre, H. et al. ( 2003 ) Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am. J. Hum. Genet. , 72 , 1401 –1411.
2. Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.P., Schwinger, E., Gecz, J. et al. ( 2004 ) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am. J. Hum. Genet. , 75 , 1149 –1154.
3. Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P. et al. ( 2004 ) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet. , 75 , 1079 –1093.
4. Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., Meloni, I., Giachino, D., Bruttini, M., Hayek, G. et al. ( 2005 ) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J. Med. Genet. , 42 , 103 –107.
5. Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Nielsen, J.B., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E. et al. ( 2005 ) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur. J. Hum. Genet ., 13 , 1113 –1120.
Cited by 105 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 review of CDKL: An underestimated protein kinase family;International Journal of Biological Macromolecules;2024-10
2. Bacterial Production of CDKL5 Catalytic Domain: Insights in Aggregation, Internal Translation and Phosphorylation Patterns;International Journal of Molecular Sciences;2024-08-15
3. Novel CDKL5 targets identified in human iPSC-derived neurons;Cellular and Molecular Life Sciences;2024-08-13
4. CMGC Kinases in Health and Cancer;Cancers;2023-07-28
5. Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology;eLife;2023-07-25
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