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Article

Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling.

Proceedings of the National Academy of Sciences of the United States of America - 19 Sept 2023

Mohamed Muhaned S, Klann Eric

Abstract excerpt

Protein synthesis is a fundamental cellular process in neurons that is essential for synaptic plasticity and memory consolidation. Here, we describe our investigations of a neuron- and muscle-specific translation factor, eukaryotic Elongation Factor 1a2 (eEF1A2), which when mutated in patients results in autism, epilepsy, and intellectual disability. We characterize three EEF1A2 patient mutations, G70S, E122K,...

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Identifiers

PMID: 37695913
DOI: 10.1073/pnas.2307704120
PMCID: PMC10515156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling.PMID 37695913Read ↗

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