Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.
Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.
复制标题
Rac GTPases失调引起的神经发育障碍的病理生理机制：神经racopathies的背后是什么。
DOI：
10.3390/cells10123395
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发表时间：
2021-12-02
期刊：
影响因子：
6
通讯作者：
Striano P
中科院分区：
文献类型：
--
作者：
Scala M;Nishikawa M;Nagata KI;Striano P
Rho家族鸟苷三磷酸酶（GTPases）调节细胞信号传导和细胞骨架动力学，在细胞粘附、迁移和细胞周期进程中起关键作用。Rho GTPases的Rac亚家族由三个高度同源的蛋白Rac 1-3组成。Rac1和Rac3的正常功能及其与鸟嘌呤核苷酸交换因子（GEFs）和gtpase激活蛋白（gap）的正确相互作用对神经发育至关重要。影响这些微妙生物过程的致病变异与人类不同的医疗状况有关，主要是神经发育障碍（ndd）。除了RAC基因的遗传变异产生的直接有害影响外，由gef和gap功能异常引起的GTPase活性失调也参与了不同新发疾病的发病机制。在本研究中，我们回顾了目前有关rac相关疾病的相关文献，主要涉及神经系统病变，概述了目前有关神经- rac病变病理生理机制的知识。
Rho family guanosine triphosphatases (GTPases) regulate cellular signaling and cytoskeletal dynamics, playing a pivotal role in cell adhesion, migration, and cell cycle progression. The Rac subfamily of Rho GTPases consists of three highly homologous proteins, Rac 1–3. The proper function of Rac1 and Rac3, and their correct interaction with guanine nucleotide-exchange factors (GEFs) and GTPase-activating proteins (GAPs) are crucial for neural development. Pathogenic variants affecting these delicate biological processes are implicated in different medical conditions in humans, primarily neurodevelopmental disorders (NDDs). In addition to a direct deleterious effect produced by genetic variants in the RAC genes, a dysregulated GTPase activity resulting from an abnormal function of GEFs and GAPs has been involved in the pathogenesis of distinctive emerging conditions. In this study, we reviewed the current pertinent literature on Rac-related disorders with a primary neurological involvement, providing an overview of the current knowledge on the pathophysiological mechanisms involved in the neuro-RACopathies.
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DOI：
10.1038/nrm2867
发表时间：
2010-04
期刊：
Nature reviews. Molecular cell biology
影响因子：
--
作者：
通讯作者：
--
影响因子：
7.8
作者：
Albertinazzi, C;Gilardelli, D;de Curtis, I
通讯作者：
de Curtis, I
影响因子：
2.5
作者：
BAYER, SA;ALTMAN, J;HUMPHREYS, L
通讯作者：
HUMPHREYS, L
影响因子：
16.6
作者：
Chang, Leifu;Yang, Jing;Barford, David
通讯作者：
Barford, David
影响因子：
4.7
作者：
Asrar, Suhail;Meng, Yanghong;Jia, Zhengping
通讯作者：
Jia, Zhengping