Article
SNAREopathies: Diversity in Mechanisms and Symptoms.
Neuron - 8 Jul 2020
Verhage Matthijs, Sørensen Jakob B
Abstract excerpt
Neuronal SNAREs and their key regulators together drive synaptic vesicle exocytosis and synaptic transmission as a single integrated membrane fusion machine. Human pathogenic mutations have now been reported for all eight core components, but patients are diagnosed with very different neurodevelopmental syndromes. We propose to unify these syndromes, based on etiology and mechanism, as "SNAREopathies." Here, we...
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