Modeling human mutations to understand TRIO GEF function during development.

Modeling human mutations to understand TRIO GEF function during development.
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对人类突变进行建模以了解 TRIO GEF 在发育过程中的功能。

DOI:
10.1016/j.tins.2023.03.004
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发表时间:
2023
影响因子:
15.9
通讯作者:
Roche,KatherineW
Roche,KatherineW
中科院分区:
医学1区
文献类型:
--
作者:
Fingleton,Erin;Roche,KatherineW

文献摘要

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在最近的一项研究中,Bonnet及其同事利用计算机结构预测和人类遗传数据来了解Trio的Rac 1激活鸟嘌呤核苷酸交换因子(Rac 1-GEF)结构域的分子调控。他们的工作揭示了Trio在轴突引导过程中的作用,并探索了Trio GEF功能在健康中调节和疾病中失调的机制。
In a recent study, Bonnet and colleagues leveragedin silicostructure prediction and human genetic data to understand the molecular regulation of the Rac1-activating guanie nucleotide exchange factor (Rac1-GEF) domain of Trio. Their work sheds new light on the role of Trio during axon guidance and explores the mechanism by which Trio GEF function is regulated in health and dysregulated in disease.