唐氏综合征（DS）CR1 通过脆性 X 相关蛋白（FMRP）引起脊柱病变。
Down syndrome DSCR1 causes spine pathology via the Fragile X-related protein FMRP.
机构信息
Friedrich Miescher Institute for Biological Research, Basel, Switzerland.
出版信息
EMBO J. 2012 Sep 12;31(18):3647-9. doi: 10.1038/emboj.2012.239. Epub 2012 Aug 21.
Abstract
EMBO J (2012) 31 18, 3655–3666 doi:; DOI: 10.1038/emboj.2012.190; August 03 2012 A new study by Wang et al (2012) published in reports that the Down Syndrome Critical Region 1 (DSCR1) protein interacts with the Fragile X-related protein (FMRP) to regulate spine morphology and local protein synthesis. These findings highlight a convergence of Down syndrome (DS) and Fragile X pathogenic pathways, and provide insights on potential therapeutic approaches.
摘要
《EMBO J》（2012）31 卷 18 期，3655-3666 页；DOI: 10.1038/emboj.2012.190；2012 年 8 月 3 日 由 Wang 等人发表的一项新研究报告指出，唐氏综合征关键区 1（DSCR1）蛋白与脆性 X 相关蛋白（FMRP）相互作用，调节脊柱形态和局部蛋白质合成。这些发现突出了唐氏综合征（DS）和脆性 X 致病途径的趋同，并为潜在的治疗方法提供了见解。
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