The activity‐dependent fusion, retrieval and recycling of synaptic vesicles is essential for the
maintenance of neurotransmission. Until relatively recently it was believed that most …

Synaptopathies are brain disorders characterized by dysfunctional synapses, which are
specialized junctions between neurons that are essential for the transmission of information …

The revolution in genetic technology has ushered in a new age for our understanding of the
underlying causes of neurodevelopmental, neuromuscular and neurodegenerative …

SNARE (soluble N-ethylmaleimide sensitive factor attachment protein receptor) complex,
composed of synaptobrevin, syntaxin, and SNAP25, forms the essential fusion machinery for …

In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Background Retrotransposons have been implicated as causes of Mendelian disease, but
their role in autism spectrum disorder (ASD) has not been systematically defined, because …

Purpose This study aims to provide a comprehensive description of the phenotypic and
genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25 …

Glioblastoma multiforme is the most common primary intracranial malignancy, but its
etiology and pathogenesis are still unclear. With the deepening of human genome research …

The Synaptotagmin (SYT) family of proteins play key roles in regulating membrane
trafficking at neuronal synapses. Using both Ca 2+-dependent and Ca 2+-independent …