Article

Autism- and epilepsy-associated <i>EEF1A2</i> mutations lead to translational dysfunction and altered actin bundling

2023-06-07

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, e ukaryotic E longation F actor 1a2 (eEF1A2), which when mutated in patients results in autism, epilepsy, and intellectual disability. We characterize three most common EEF1A2 patient mutatio...

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Literature Corpus work: 922d693b-f940-55e0-9f29-06f9f015ff26
DOI: 10.1101/2023.06.06.543912

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