The Many Faces of Elongator in Neurodevelopment and Disease.
The Many Faces of Elongator in Neurodevelopment and Disease.
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DOI：
10.3389/fnmol.2016.00115
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发表时间：
2016
影响因子：
4.8
通讯作者：
Wainwright B
中科院分区：
文献类型：
--
作者：
Kojic M;Wainwright B
神经系统的发育需要多种细胞活动，如增殖、迁移、轴突生长和引导以及神经前体分化为成熟神经元期间的突触形成。这些高度调节和协调的事件的功能障碍导致各种神经系统疾病。延长子复合体是一种在真核生物中高度保守的多亚基复合体，其功能与神经发育的大多数细胞活动有关。这些活动包括细胞运动、肌动蛋白细胞骨架组织、胞吐作用、极化分泌、细胞内运输和神经功能的维持。一些研究已经将Elongator亚单位的突变与神经系统疾病家族性自主神经功能障碍（FD）、智力残疾（ID）、肌萎缩侧索硬化（ALS）和罗兰癫痫（RE）相关联。在这里，我们回顾了分配给这个复杂的各种细胞活动，并讨论了神经发育和疾病的影响。在这一领域的进一步研究有可能产生新的诊断工具，更好的预防策略和更有效的治疗方案，用于各种神经系统疾病。
Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons. Malfunction of these highly regulated and coordinated events results in various neurological diseases. The Elongator complex is a multi-subunit complex highly conserved in eukaryotes whose function has been implicated in the majority of cellular activities underlying neurodevelopment. These activities include cell motility, actin cytoskeleton organization, exocytosis, polarized secretion, intracellular trafficking and the maintenance of neural function. Several studies have associated mutations in Elongator subunits with the neurological disorders familial dysautonomia (FD), intellectual disability (ID), amyotrophic lateral sclerosis (ALS) and rolandic epilepsy (RE). Here, we review the various cellular activities assigned to this complex and discuss the implications for neural development and disease. Further research in this area has the potential to generate new diagnostic tools, better prevention strategies and more effective treatment options for a wide variety of neurological disorders.
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发表时间：
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