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Impaired Function of PLEKHG2, a Rho-Guanine Nucleotide-Exchange Factor, Disrupts Corticogenesis in Neurodevelopmental Phenotypes

Cells. 2022-02; 
Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Hiroshi Ueda, Koh-Ichi Nagata
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Custom Vector Construction p21-binding domain (PBD) in human PAK1 (aa 67–150) was amplified by PCR from a cDNA pool of U251MG cells and constructed into pGS21a vector (GenScript, Piscataway, NJ, USA) Get A Quote

摘要

Homozygosity of the p.Arg204Trp variation in the Pleckstrin homology and RhoGEF domain containing G2 () gene, which encodes a Rho family-specific guanine nucleotide-exchange factor, is responsible for microcephaly with intellectual disability. However, the role of PLEKHG2 during neurodevelopment remains unknown. In this study, we analyzed mouse Plekhg2 function during cortical development, both in vitro and in vivo. The p.Arg200Trp variant in mouse (Plekhg2-RW), which corresponds to the p.Arg204Trp variant in humans, showed decreased guanine nucleotide-exchange activity for Rac1, Rac3, and Cdc42. Acute knockdown of Plekhg2 using in utero electroporation-mediated gene transfer did not affect the migration of exc... More

关键词

PLEKHG2, Rho family small GTPases, RhoGEF, axon guidance, brain development, dendrite formation, dendritic spine development