A5102785422- Cellular transport and secretion
- Lipid Membrane Structure and Behavior
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Endoplasmic Reticulum Stress and Disease
- Retinal Development and Disorders
University of Copenhagen
2023-2025
Heidelberg University
2023
SNAP25 is one of three neuronal SNAREs driving synaptic vesicle exocytosis. We studied mutations in that cause epileptic encephalopathy: V48F, and D166Y the synaptotagmin-1 (Syt1)-binding interface, I67N, which destabilizes SNARE complex. All reduced Syt1-dependent docking to SNARE-carrying liposomes Ca 2+ -stimulated membrane fusion vitro when expressed mouse hippocampal neurons. The V48F mutants (with potency > V48F) led readily releasable pool (RRP) size, due increased spontaneous...
Abstract SNAP25 is one of three neuronal SNAREs driving synaptic vesicle exocytosis. We studied mutations in that cause epileptic encephalopathy: V48F, and D166Y the Synaptotagmin-1 (Syt1) binding interface, I67N, which destabilizes SNARE-complex. All reduced Syt1-dependent docking to SNARE-carrying liposomes Ca 2+ -stimulated membrane fusion vitro neurons. The V48F mutants (with potency > V48F) led Readily Releasable Pool (RRP) size, due increased spontaneous (mEPSC) release decreased...
SNAREopathies constitute a group of severe genetic neurodevelopmental disorders caused by de novo variants that disturb the synaptic release machinery. These comprise highly diverse clinical phenotypes, usually including developmental delay, epilepsy, intellectual disability, and sometimes autism spectrum disorder. Despite major progress in testing, current treatments are limited to symptom-directed therapies. There is an urgent need establish human experimental systems improve...
SNAP25 is one of three neuronal SNAREs driving synaptic vesicle exocytosis. We studied mutations in that cause epileptic encephalopathy: V48F, and D166Y the synaptotagmin-1 (Syt1)-binding interface, I67N, which destabilizes SNARE complex. All reduced Syt1-dependent docking to SNARE-carrying liposomes Ca2+-stimulated membrane fusion vitro when expressed mouse hippocampal neurons. The V48F mutants (with potency > V48F) led readily releasable pool (RRP) size, due increased spontaneous...