建立人类突变模型以了解 TRIO GEF 在发育过程中的功能。

Modeling human mutations to understand TRIO GEF function during development.

机构信息

Receptor Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Graduate Partnership Program, Neuroscience Department, Brown University, Providence, RI, USA.

Receptor Biology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

出版信息

Trends Neurosci. 2023 Jun;46(6):411-412. doi: 10.1016/j.tins.2023.03.004. Epub 2023 Mar 21.

DOI:10.1016/j.tins.2023.03.004

PMID:36959051

Abstract

In a recent study, Bonnet and colleagues leveraged in silico structure 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.

摘要

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 Rac1 激活鸟嘌呤核苷酸交换因子 (Rac1-GEF) 结构域的分子调控。他们的工作为 Trio 在轴突导向中的作用提供了新的视角，并探讨了 Trio GEF 功能在健康状态下如何受到调节以及在疾病状态下如何失调的机制。