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Cited by 73Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchProtein Kinase Regulation and GTPase Signaling

Rho GTPase Regulators and Effectors in Autism Spectrum Disorders: Animal Models and Insights for Therapeutics

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Guo, Daji, Yang, Xiaoman, Shi, Lei·2020·Cells
DOI 10.3390/cells9040835PMC PMC7226772
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Abstract

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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Authors
Guo, D., Yang, X., & Shi, L.
Affiliations
Jinan University (CN)
Corresponding author
Shi, Lei
ORCID
Venue
Cells
Publisher
MDPI AG
Published
2020-03-31
Volume
9
Issue
4
Pages
835
ISSN
2073-4409 (ISSN-L)
DOI
10.3390/cells9040835
PMC
PMC7226772
OpenAlex
W3013927227
Cited by
73
References
257
Citations by year
2026: 5 · 2025: 7 · 2024: 18 · 2023: 5 · 2022: 12 · 2021: 23 · 2020: 1 · 2019: 2
FWCI
1.78
Type
journal article
Language
en
Open access
Licence
Locations
  • Cells (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
Funders
  • Newton Fund (AOMS-NAF0051003)
  • National Natural Science Foundation of China (81761130084)
  • Key Realm R&D Program of Guangdong Province (2019B030335001)
  • Local Innovative and Research Teams Project of Guangdong Pearl River Talents Program (2017BT01Y036)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Kinase Regulation and GTPase Signaling
Keywords
Rho GTPases, autism spectrum disorder, guanine nucleotide exchange factor, GTPase-activating protein, Rho effectors, ASD risk genes, neuronal morphology, animal models of autism, behavioral phenotypes, treatment options
MeSH terms
Autism Spectrum Disorder, Animals, Disease Models, Animal, Humans, GTPase-Activating Proteins, rho GTP-Binding Proteins

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