Publications by authors named "Paul Yangho Park"
EBioMedicine
November 2024
Article Synopsis
- Pathogenic missense variants in the synaptic vesicle protein synaptotagmin-1 (SYT1) lead to a neurodevelopmental disorder with motor delays, intellectual disabilities, and visual impairments due to impaired neurotransmitter release.
- Research on cultured neurons has shown that specific variants in the SYT1 protein hinder exocytosis, causing varying degrees of dysfunction based on the variant's location.
- The study establishes a direct correlation between the exocytic efficiency of SYT1 variants and the severity of developmental impairments, indicating a clear relationship between genetic mutations, neurotransmitter release, and functional outcomes, paving the way for potential therapeutic approaches.
