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Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons

31 May 2023

Abstract excerpt

STXBP1-related disorder (STXBP1-RD) is a neurodevelopmental disorder caused by pathogenic variants in the STXBP1 gene. Its gene product MUNC18-1 organizes synaptic vesicle exocytosis and is essential for synaptic transmission. Patients present with developmental delay, intellectual disability and/or epileptic seizures, with high clinical heterogeneity. To date, the cellular deficits of STXBP1-RD patient neurons...

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PMID: 38298782
DOI: 10.1016/j.bpsgos.2023.05.004

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