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Abstract：
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.
摘要：
Rho家族鸟苷三磷酸酶（GTPases）调节细胞信号和细胞骨架动力学，在细胞粘附中起关键作用，迁移,和细胞周期进程。RhoGTPases的Rac亚家族由三个高度同源的蛋白质组成，Rac1-3.Rac1和Rac3的正常功能以及它们与鸟嘌呤核苷酸交换因子（GEF）和GTPase激活蛋白（GAP）的正确相互作用对于神经发育至关重要。影响这些微妙的生物过程的致病变异与人类不同的医疗条件有关，主要是神经发育障碍（NDD）。除了RAC基因中的遗传变异产生的直接有害作用外，由GEF和GAP的功能异常引起的GTP酶活性失调已经参与了独特的新兴疾病的发病机理。在这项研究中,我们回顾了当前有关Rac相关疾病与原发性神经系统受累的相关文献，提供有关神经-RACopathy病理生理机制的现有知识的概述。
