Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability

The engulfment and cell motility 3 (ELMO3) protein belongs to the ELMO-family of proteins. ELMO proteins form a tight complex with the DOCK1-5 guanine nucleotide exchange factors that regulate RAC1 spatiotemporal activation and signalling. DOCK proteins and RAC1 are known to have fundamental roles i...

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Detalles Bibliográficos
Autores principales: Tran, Viviane, Goyette, Marie-Anne, Martínez-García, Mónica, Jiménez de Domingo, Ana, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Tirado, Pilar, Calleja-Pérez, Beatriz, Álvarez, Sara, Côté, Jean-François, Fernández-Jaén, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9707537/
https://www.ncbi.nlm.nih.gov/pubmed/33660564
http://dx.doi.org/10.1080/21541248.2021.1888557

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9707537/
https://www.ncbi.nlm.nih.gov/pubmed/33660564
http://dx.doi.org/10.1080/21541248.2021.1888557

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