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Article

Baker-Gordon Syndrome-Associated Synaptotagmin-1 Mutations Reduce Synaptic Strength in Mouse Primary and Human-Induced Neuronal Culture Models.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 28 Jan 2026

Fenske Pascal, Hosseini Hassan, Bouazza-Arostegui Boris, Trimbuch Thorsten, Herman Melissa A, Rosenmund Christian

Abstract excerpt

Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder (NDD) linked to a series of de novo mutations in the synaptic vesicle protein, Synaptotagmin-1 (SYT1). SYT1 is the major calcium sensor for synaptic transmission, and therefore a key molecule in neuronal communication. Several approaches have been used to reveal the underlying molecular mechanisms that lead to BAGOS pathology. While the murine genetic...

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Identifiers

PMID: 41475766
DOI: 10.1523/JNEUROSCI.0762-25.2025
PMCID: PMC12853263

Genes

SYT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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