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Abnormalities in interactions of Rho GTPases with scaffolding proteins contribute to neurodevelopmental disorders
Author(s) -
Reichova Alexandra,
Zatkova Martina,
Bacova Zuzana,
Bakos Jan
Publication year - 2018
Publication title -
journal of neuroscience research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.72
H-Index - 160
eISSN - 1097-4547
pISSN - 0360-4012
DOI - 10.1002/jnr.24200
Subject(s) - gtpase , scaffold protein , kinase , biology , guanine nucleotide exchange factor , microbiology and biotechnology , small gtpase , effector , signal transduction , cofilin , actin cytoskeleton , neuroscience , cytoskeleton , genetics , cell
Abstract Accumulating evidence suggests that Rho GTPases, together with scaffolding SHANK proteins, and associated signaling pathways play a role in the development of autism symptoms in various conditions. Research data have brought information on multiple intracellular signaling pathways, including Rho‐associated protein kinases and serine/threonine‐protein kinases involved in cytoskeleton rearranging. Alterations in downstream effectors of GTPase signaling pathways are associated with neurodevelopmental disorders. Bioinformatics and experimental data show that complex genetic and molecular defects (GTPases, actin‐binding proteins, kinases, neuropeptides) can result in neuronal remodeling, leading to the functional connectivity deficits that manifest as the heterogeneous autism spectrum phenotype. Finally, the known hormone and neuropeptide oxytocin appears to be a factor for consideration in therapeutic intervention.