Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Neuronal SNAREs and their key regulators together drive synaptic vesicle exocytosis and
synaptic transmission as a single integrated membrane fusion machine. Human pathogenic …

A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …

A major function of TAR DNA-binding protein-43 (TDP-43) is to repress the inclusion of
cryptic exons during RNA splicing. One of these cryptic exons is in UNC13A, a genetic risk …

Abstract Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-
dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This …

Membrane fusion is a universal feature of eukaryotic protein trafficking and is mediated by
the soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE) family …

Synaptic dysfunction is associated with many brain disorders, but robust human cell models
to study synaptic transmission and plasticity are lacking. Instead, current in vitro studies on …

The unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian
uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain—predominantly in …

Objective: Many population studies have shown that maternal prenatal nutrition deficiency
may increase the risk of neurodevelopmental disorders in their offspring, but its potential …

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2).
Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25) …