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Disruption of the Homer1 coiled-coiled domain by a novel de novo human <i>HOMER1</i> variant impairs protein scaffolding, calcium signalling, and synaptogenesis

2026-08-06

Abstract excerpt

Rare de novo variants in synaptic scaffolding proteins are increasingly recognized for their roles in driving abnormal neuronal connectivity underlying conditions such as epilepsy and autism spectrum disorder (ASD). Homer1b/c, a synaptic scaffolding protein, regulates a wide suite of synaptic functions including Ca 2+ signalling, dendritic spine morphogenesis and multiple forms of synaptic plasticity. Here we rep...

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Literature Corpus work
62d6dd6a-5664-5da2-8931-b2886838b27a
DOI
10.64898/2026.08.05.741753
Open publication

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Disruption of the Homer1 coiled-coiled domain by a novel de novo human <i>HOMER1</i> variant impairs protein scaffolding, calcium signalling, and synaptogenesisDOI 10.64898/2026.08.05.741753
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