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与我们一同飞翔:迈向对脆性X综合征的理解。

Come FLY with us: toward understanding fragile X syndrome.

作者信息

Zarnescu D C, Shan G, Warren S T, Jin P

机构信息

Department of Cell Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.

出版信息

Genes Brain Behav. 2005 Aug;4(6):385-92. doi: 10.1111/j.1601-183X.2005.00136.x.

DOI:10.1111/j.1601-183X.2005.00136.x
PMID:16098136
Abstract

The past few years have seen an increased number of articles using Drosophila as a model system to study fragile X syndrome. Phenotypic analyses have demonstrated an array of neuronal and behavioral defects similar to the phenotypes reported in mouse models as well as human patients. The availability of both cellular and molecular tools along with the power of genetics makes the tiny fruit fly a premiere model in elucidating the molecular basis of fragile X syndrome. Here, we summarize the advances made in recent years in the characterization of fragile X Drosophila models and the identification of new molecular partners in neural development.

摘要

在过去几年中,使用果蝇作为模型系统来研究脆性X综合征的文章数量有所增加。表型分析已经证明了一系列神经元和行为缺陷,这些缺陷与在小鼠模型以及人类患者中报道的表型相似。细胞和分子工具的可用性以及遗传学的力量,使得这种微小的果蝇成为阐明脆性X综合征分子基础的首要模型。在这里,我们总结了近年来在脆性X果蝇模型特征描述以及神经发育中新分子伙伴鉴定方面所取得的进展。

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1
Come FLY with us: toward understanding fragile X syndrome.与我们一同飞翔:迈向对脆性X综合征的理解。
Genes Brain Behav. 2005 Aug;4(6):385-92. doi: 10.1111/j.1601-183X.2005.00136.x.
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引用本文的文献

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Deregulation of ER-mitochondria contact formation and mitochondrial calcium homeostasis mediated by VDAC in fragile X syndrome.脆性 X 综合征中通过 VDAC 调节内质网-线粒体接触形成和线粒体钙稳态。
Dev Cell. 2023 Apr 10;58(7):597-615.e10. doi: 10.1016/j.devcel.2023.03.002.
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New Animal Models for Understanding FMRP Functions and FXS Pathology.用于理解 FMRP 功能和 FXS 病理的新型动物模型。
Cells. 2022 May 12;11(10):1628. doi: 10.3390/cells11101628.
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Prepulse inhibition in larvae.幼虫中的前脉冲抑制。
Biol Open. 2018 Sep 27;7(9):bio034710. doi: 10.1242/bio.034710.
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Postsynaptic FMRP Regulates Synaptogenesis in the Developing Cochlear Nucleus.突触后 FMRP 调节发育中耳蜗核的突触形成。
J Neurosci. 2018 Jul 18;38(29):6445-6460. doi: 10.1523/JNEUROSCI.0665-18.2018. Epub 2018 Jun 27.
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Dynamic duo - FMRP and TDP-43: Regulating common targets, causing different diseases.活力组合——脆性X智力低下蛋白(FMRP)和TAR DNA结合蛋白43(TDP-43):调控共同靶点,引发不同疾病
Brain Res. 2018 Aug 15;1693(Pt A):37-42. doi: 10.1016/j.brainres.2018.04.034. Epub 2018 Apr 30.
6
Proteomic analyses of nucleus laminaris identified candidate targets of the fragile X mental retardation protein.对层状核的蛋白质组学分析确定了脆性X智力低下蛋白的候选靶点。
J Comp Neurol. 2017 Oct 15;525(15):3341-3359. doi: 10.1002/cne.24281. Epub 2017 Jul 24.
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Drosophila Shep and C. elegans SUP-26 are RNA-binding proteins that play diverse roles in nervous system development.果蝇中的Shep和秀丽隐杆线虫中的SUP-26是RNA结合蛋白,它们在神经系统发育中发挥着多种作用。
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The challenges of clinical trials in fragile X syndrome.脆性X综合征临床试验面临的挑战。
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