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

Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L., … Millard, T. H. (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain, 145(12), 4232–4245. https://doi.org/10.1093/brain/awac049
Authors:
Siddharth Banka
Abigail Bennington
Martin J Baker
Ellen Rijckmans
Giuliana D Clemente
Nurhuda Mohamad Ansor
Hilary Sito
Pritha Prasad
Kwame Anyane-Yeboa
Lauren Badalato
Boyan Dimitrov
David Fitzpatrick
Anna C E Hurst
Anna C Jansen
Melissa A Kelly
Ian Krantz
Claudine Rieubland
Meredith Ross
Natasha L Rudy
Javier Sanz
Katrien Stouffs
Zhuo Luan Xu
Angeliki Malliri
Marcelo G Kazanietz
Tom H Millard
Affiliated Authors:
Kwame Anyane-Yeboa
Meredith Ross
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Ras Signaling Pathways (OpenAlex Topic)
Mechanisms of Intracellular Membrane Trafficking (OpenAlex Topic)
Regulation and Function of Microtubules in Cell Division (OpenAlex Topic)
Megalencephaly (MeSH)
Neurodevelopmental Disorders (MeSH)
rac1 GTP-Binding Protein (MeSH)
Author Keywords:
intellectual disability
polymicrogyria
rac1
small gtpases
wave regulatory complex
elink
Publication Type:
Article
Unique ID:
10.1093/brain/awac049
PMID:
35139179
DOI:
10.1093/brain/awac049
Journal:
Brain
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record

Record Created: