Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

RAC1 is a highly conserved Rho GTPase critical for many cellular and developmental processes. De novo missense RAC1 variants cause a highly variable neurodevelopmental disorder. Some of these variants have previously been shown to have a dominant negative effect. Most previously reported patients wi...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2022-12, Vol.145 (12), p.4232-4245
Hauptverfasser:	Banka, Siddharth, Bennington, Abigail, Baker, Martin J, Rijckmans, Ellen, Clemente, Giuliana D, Ansor, Nurhuda Mohamad, Sito, Hilary, Prasad, Pritha, Anyane-Yeboa, Kwame, Badalato, Lauren, Dimitrov, Boyan, Fitzpatrick, David, Hurst, Anna C E, Jansen, Anna C, Kelly, Melissa A, Krantz, Ian, Rieubland, Claudine, Ross, Meredith, Rudy, Natasha L, Sanz, Javier, Stouffs, Katrien, Xu, Zhuo Luan, Malliri, Angeliki, Kazanietz, Marcelo G, Millard, Tom H
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Megalencephaly - genetics Mice Neurodevelopmental Disorders - genetics Neurons NIH 3T3 Cells Original rac1 GTP-Binding Protein Signal Transduction - genetics
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