引言
核孔复合体(Nuclear Pore Complex, NPC)是连接细胞核与细胞质之间的重要通道,负责调控核-质之间的信息传递【1】。NPC的功能对于维持神经元的正常生理活动至关重要,其缺陷与多种神经系统疾病密切相关【2】。然而,目前对神经元中NPC的生成和空间组织机制的理解仍然十分有限。
TorsinA 蛋白与神经元NPC生成与神经发育性疾病都有关。TorsinA 是一种AAA+蛋白(tripple-A ATPases),位于内质网(ER)/核膜(NE)腔内【3】。TorsinA功能缺失与DYT1型扭转痉挛等神经发育运动障碍有关【4】。
近日,来自德克萨斯大学西南医学中心William T. Dauer、Samuel S. Pappas与密歇根大学Sami J. Barmada合作在Nature Cell Biology上发表了题为TorsinA is essential for the timing and localization of neuronal nuclear pore complex biogenesis的文章,揭示了神经元发育过程中,TorsinA在NPC生成和空间组织中的关键作用。


模式图(Credit: Nature Cell Biology)
参考文献
1. Knockenhauer K.E., and Schwartz T.U. (2016). The Nuclear Pore Complex as a Flexible and Dynamic Gate. Cell 164, 1162–1171. 10.1016/j.cell.2016.01.034.2. Cohen S., and Greenberg M.E. (2008). Communication Between the Synapse and the Nucleus in Neuronal Development, Plasticity, and Disease. Annu. Rev. Cell Dev. Biol. 24, 183–209. 10.1146/annurev.cellbio.24.110707.175235.3. Ozelius L.J., Hewett J.W., Page C.E., Bressman S.B., Kramer P.L., Shalish C., de Leon D., Brin M.F., Raymond D., Corey D.P., et al. (1997). The early- onset torsion dystonia gene (DYT1) encodes an ATPbinding protein. Nat. Genet. 17, 40–48. 10.1038/ng0997-40.4. Ozelius L.J., Hewett J., Kramer P., Bressman S.B., Shalish C., De Leon D., Rutter M., Risch N., Brin M.F., Markova E.D., et al. (1997). Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 7, 483–494. 10.1101/gr.7.5.483.https://www.nature.com/articles/s41556-024-01480-1责编|探索君
排版|探索君
文章来源|“BioArt”
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