Article

A pathogenic AMPA receptor gating mutation disrupts synapse-mitochondrion axis and stalls synapse maturation

2026-01-26

Abstract excerpt

AMPA receptors (AMPARs) are central regulators of excitatory synaptic transmission and play critical roles in activity-dependent synapse maturation and circuit development. De novo missense mutations in AMPAR subunits have been widely linked to neurodevelopmental disorders (NDDs). Despite this, how these variants lead to neuronal dysfunction remain poorly understood. Here, we investigate the consequences of a rec...

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Literature Corpus work: 0f693f76-2dd7-5506-ab54-02b51b3286dc
DOI: 10.64898/2026.01.26.701845

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