The p.R66W Variant in <i>RAC3</i> Causes Severe Fetopathy Through Variant-Specific Mechanisms

The p.R66W Variant in <i>RAC3</i> Causes Severe Fetopathy Through Variant-Specific Mechanisms

<i>RAC3</i> encodes a small GTPase of the Rho family that plays a critical role in actin cytoskeleton remodeling and intracellular signaling regulation. Pathogenic variants in <i>RAC3</i>, all of which reported thus far affect conserved residues within its functional domains,...

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Main Authors: Ryota Sugawara, Hidenori Ito, Hidenori Tabata, Hiroshi Ueda, Marcello Scala, Koh-ichi Nagata
Format: Article
Language:English
Published: MDPI AG 2024-12-01
Series:Cells
Subjects:
RAC3
small GTPase
neurodevelopmental disorder
corticogenesis
neuronal migration
axon extension
Online Access:https://www.mdpi.com/2073-4409/13/23/2032
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https://www.mdpi.com/2073-4409/13/23/2032

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