期刊
CELLS
卷 9, 期 4, 页码 -出版社
MDPI
DOI: 10.3390/cells9040835
关键词
Rho GTPase; autism spectrum disorder; guanine nuclear exchange factor; GTPase-activating protein; animal model; behavior
类别
资金
- Academy of Medical Sciences Newton Advanced Fellowship
- Royal Society
- National Natural Science Foundation of China [UK/China] [AOMS-NAF0051003/81761130084]
- Key Realm R&D Program of Guangdong Province [2019B030335001]
- Local Innovative and Research Teams Project of Guangdong Pearl River Talents Program [2017BT01Y036]
The Rho family GTPases are small G proteins that act as molecular switches shuttling between active and inactive forms. Rho GTPases are regulated by two classes of regulatory proteins, guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Rho GTPases transduce the upstream signals to downstream effectors, thus regulating diverse cellular processes, such as growth, migration, adhesion, and differentiation. In particular, Rho GTPases play essential roles in regulating neuronal morphology and function. Recent evidence suggests that dysfunction of Rho GTPase signaling contributes substantially to the pathogenesis of autism spectrum disorder (ASD). It has been found that 20 genes encoding Rho GTPase regulators and effectors are listed as ASD risk genes by Simons foundation autism research initiative (SFARI). This review summarizes the clinical evidence, protein structure, and protein expression pattern of these 20 genes. Moreover, ASD-related behavioral phenotypes in animal models of these genes are reviewed, and the therapeutic approaches that show successful treatment effects in these animal models are discussed.
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