Author

Koh-Ichi Nagata

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Review Open access Sep 2026

Wiring the developing brain: The Rho GTPase signaling network in neurodevelopmental disorders.

Human genetics has substantially advanced our understanding of the Rho GTPase signaling network in brain development and established its dysregulation as an important mechanism underlying neurodevelopmental disorders (NDDs). Through the spatiotemporal control of actin cytoskeleton dynamics, canonical and atypical Rho G...

A. Falace, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi et al. · Neurobiology of Disease · 0 citations

Aug 2026

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

Heterozygous carboxyl-terminal variants in the RHO guanosine triphosphatase (GTPase) CDC42 are known to cause severe autoinflammatory syndromes. Here, we identified a heterozygous amino-terminal p.T43I (Thr43→Ile) CDC42 variant in patients with autoinflammation and uncovered a molecular link between CDC42 and the infla...

Mariko Aoki, A. Iannuzzo, P. Mertz et al. · Science immunology · 4 citations

Open access Jul 2026

A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signaling.

Results indicate that reduced PREX1-RAC1 signaling leads to mislocalization, dendritic overgrowth, and neuronal hyperexcitability, which may underlie epilepsy in the human case.

Masashi Nishikawa, Yuri Uchiyama, Kazuyuki Nakamura et al. · Scientific Reports · 0 citations