Article

From Bedside to Bench: <i>Drosophila</i> Models of Baker-Gordon Syndrome (BAGOS)

2026-04-06

Abstract excerpt

De novo SYT1 mutations cause Baker–Gordon syndrome (BAGOS), yet the pathogenic mechanisms are not well understood. We identified a child carrying a newly described SYT1 variant, D310N, which produced a consistently more severe clinical phenotype compared to a previously reported D366E variant. To investigate the biological basis of these differences, we generated Drosophila models harboring each variant. Heteroz...

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Literature Corpus work: 202cd8fc-c8c2-57fe-937d-1e715bf13a7b
DOI: 10.64898/2026.04.04.26350071

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