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Article

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

Small GTPases - 1 Jan 2022

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

Abstract excerpt

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 in central nervous system development. Here, we searched for homozygous or compound heterozygous mutations in the...

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Identifiers

PMID: 33660564
DOI: 10.1080/21541248.2021.1888557
PMCID: PMC9707537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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