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Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers.由C9orf72重复扩增编码的毒性PR多聚二肽靶向LC结构域聚合物。
Cell. 2016 Oct 20;167(3):789-802.e12. doi: 10.1016/j.cell.2016.10.003.
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Toxic PR poly-dipeptides encoded by the repeat expansion block nuclear import and export.由重复扩增编码的毒性PR多聚二肽会阻碍核输入和输出。
Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):E1111-E1117. doi: 10.1073/pnas.1620293114. Epub 2017 Jan 9.
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C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.C9orf72二肽重复序列损害无膜细胞器的组装、动力学和功能。
Cell. 2016 Oct 20;167(3):774-788.e17. doi: 10.1016/j.cell.2016.10.002.
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Poly-PR in C9ORF72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Causes Neurotoxicity by Clathrin-Dependent Endocytosis.C9ORF72 相关肌萎缩性侧索硬化症/额颞叶痴呆中的多聚-PR 通过网格蛋白依赖性内吞作用导致神经毒性。
Neurosci Bull. 2019 Oct;35(5):889-900. doi: 10.1007/s12264-019-00395-4. Epub 2019 May 30.
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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.C9orf72二肽重复毒性的调节剂将核质运输缺陷与额颞叶痴呆/肌萎缩侧索硬化症联系起来。
Nat Neurosci. 2015 Sep;18(9):1226-9. doi: 10.1038/nn.4085.
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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.由 C9orf72 重复序列编码的多二肽结合核仁，阻碍 RNA 生物发生，并杀死细胞。
Science. 2014 Sep 5;345(6201):1139-45. doi: 10.1126/science.1254917. Epub 2014 Jul 31.
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Repeated repeat problems: Combinatorial effect of C9orf72-derived dipeptide repeat proteins.重复出现的问题：C9orf72 衍生二肽重复蛋白的组合效应。
Int J Biol Macromol. 2019 Apr 15;127:136-145. doi: 10.1016/j.ijbiomac.2019.01.035. Epub 2019 Jan 9.
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The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis.DNA损伤反应（DDR）由肌萎缩侧索硬化症中的C9orf72重复扩增所诱导。
Hum Mol Genet. 2017 Aug 1;26(15):2882-2896. doi: 10.1093/hmg/ddx170.
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Cell Biology. Clogging information flow in ALS.细胞生物学。肌萎缩侧索硬化症中的信息流动阻塞
Science. 2014 Sep 5;345(6201):1118-9. doi: 10.1126/science.1259461.
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Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity.可溶性和不溶性二肽重复蛋白在 C9orf72 额颞叶痴呆脑中的测量显示出区域差异溶解性，并且聚-GR 与临床严重程度相关。
Acta Neuropathol Commun. 2020 Nov 9;8(1):184. doi: 10.1186/s40478-020-01036-y.
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Vimentin intermediate filaments as structural and mechanical coordinators of mesenchymal cells.波形蛋白中间丝作为间充质细胞的结构和力学协调者。
Nat Cell Biol. 2025 Aug;27(8):1210-1218. doi: 10.1038/s41556-025-01713-x. Epub 2025 Aug 5.
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RIM Mutants Occlude the Effects of Aliphatic Alcohols on Locomotion.RIM突变体消除了脂肪醇对运动的影响。
MicroPubl Biol. 2025 Jun 12;2025. doi: 10.17912/micropub.biology.001611. eCollection 2025.
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TUG protein acts through a disordered region to organize the early secretory pathway.TUG蛋白通过一个无序区域发挥作用，以组织早期分泌途径。
Nat Commun. 2025 Jul 1;16(1):5518. doi: 10.1038/s41467-025-60691-8.
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Molecular insights into the effect of 1,6-hexanediol on FUS phase separation.1,6-己二醇对FUS相分离影响的分子见解。
EMBO J. 2025 May;44(10):2725-2740. doi: 10.1038/s44318-025-00431-2. Epub 2025 Apr 25.
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A simple method for mapping the location of cross-β-forming regions within protein domains of low sequence complexity.一种用于绘制低序列复杂性蛋白质结构域内交叉β形成区域位置的简单方法。
Proc Natl Acad Sci U S A. 2025 Apr 29;122(17):e2503382122. doi: 10.1073/pnas.2503382122. Epub 2025 Apr 23.
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Signal-induced NLRP3 phase separation initiates inflammasome activation.信号诱导的NLRP3相分离启动炎性小体激活。
Cell Res. 2025 Apr 1. doi: 10.1038/s41422-025-01096-6.
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The nuclear poly(A)-binding protein Pab2/PABPN1 promotes heterochromatin assembly through the formation of Pab2 nuclear condensates.核多聚腺苷酸结合蛋白Pab2/PABPN1通过形成Pab2核凝聚物促进异染色质组装。
PLoS Genet. 2025 Mar 31;21(3):e1011647. doi: 10.1371/journal.pgen.1011647. eCollection 2025 Mar.
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The mechanobiology of biomolecular condensates.生物分子凝聚物的力学生物学
Biophys Rev (Melville). 2025 Mar 25;6(1):011310. doi: 10.1063/5.0236610. eCollection 2025 Mar.
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C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7.C9ORF72 多聚脯氨酸通过 SRSF7 破坏与肌萎缩侧索硬化症/额颞叶痴呆相关的 STMN2 的表达。
Acta Neuropathol Commun. 2025 Mar 26;13(1):67. doi: 10.1186/s40478-025-01977-2.
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Liquid-liquid phase separation of LARP7 restrains HIV-1 replication.LARP7的液-液相分离抑制HIV-1复制。
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本文引用的文献
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An RNA-binding atypical tropomyosin recruits kinesin-1 dynamically to oskar mRNPs.一种RNA结合型非典型原肌球蛋白将驱动蛋白-1动态募集到oskar信使核糖核蛋白颗粒上。
EMBO J. 2017 Feb 1;36(3):319-333. doi: 10.15252/embj.201696038. Epub 2016 Dec 27.
2
An Atypical Tropomyosin in Drosophila with Intermediate Filament-like Properties.果蝇中一种具有中间丝样特性的非典型原肌球蛋白。
Cell Rep. 2016 Jul 26;16(4):928-938. doi: 10.1016/j.celrep.2016.06.054. Epub 2016 Jul 7.
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Amyloids assemble as part of recognizable structures during oogenesis in Xenopus.在非洲爪蟾的卵子发生过程中，淀粉样蛋白作为可识别结构的一部分进行组装。
Biol Open. 2016 Jun 15;5(6):801-6. doi: 10.1242/bio.017384.
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Mechanisms and Consequences of Macromolecular Phase Separation.大分子相分离的机制和后果。
Cell. 2016 May 19;165(5):1067-1079. doi: 10.1016/j.cell.2016.05.026.
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The Structure and Dynamics of Higher-Order Assemblies: Amyloids, Signalosomes, and Granules.高阶组装体的结构与动力学：淀粉样蛋白、信号小体和颗粒
Cell. 2016 May 19;165(5):1055-1066. doi: 10.1016/j.cell.2016.05.004.
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The LC Domain of hnRNPA2 Adopts Similar Conformations in Hydrogel Polymers, Liquid-like Droplets, and Nuclei.异质核糖核蛋白A2的LC结构域在水凝胶聚合物、液滴状微滴和细胞核中呈现相似的构象。
Cell. 2015 Nov 5;163(4):829-39. doi: 10.1016/j.cell.2015.10.040.
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It's Raining Liquids: RNA Tunes Viscoelasticity and Dynamics of Membraneless Organelles.液体如雨下：RNA调节无膜细胞器的粘弹性和动力学
Mol Cell. 2015 Oct 15;60(2):189-92. doi: 10.1016/j.molcel.2015.10.006.
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Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.C9ORF72基因存在重复扩增的患者中，特定C9ORF72转录本的新型临床关联。
Acta Neuropathol. 2015 Dec;130(6):863-76. doi: 10.1007/s00401-015-1480-6. Epub 2015 Oct 5.
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A strategy for dissecting the architectures of native macromolecular assemblies.一种剖析天然大分子组装体结构的策略。
Nat Methods. 2015 Dec;12(12):1135-8. doi: 10.1038/nmeth.3617. Epub 2015 Oct 5.
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Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins.RNA结合蛋白介导的相分离液滴的形成与成熟
Mol Cell. 2015 Oct 15;60(2):208-19. doi: 10.1016/j.molcel.2015.08.018. Epub 2015 Sep 24.
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