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AAV adeno-associated virus ADBE activity-dependent bulk endocytosis AP5 2-amino-5-phosphonopentanoic acid BDNF brain-derived neurotrophic factor BSA bovine serum albumin CAG cytosine alanine guanine triplicate CGN cerebellar granule neurons CME clathrin-mediated endocytosis CNQX 6-cyano-7-nitroquinoxaline-23-dione DIV days in vitro DMEM-F12 Dulbecco's modified eagle medium: nutrient mixture F-12 E embryonic day GFP green fluorescent protein GSK3 glycogen synthase kinase 3 GTPase guanosine...

AP2 adaptor protein complex 2 GABA gamma-aminobutyric acid GAP-43 growth associated protein-43 PI(4,5)P2 phosphatidylinositol (4,5) bisphosphate PIPKIγ phosphatidylinositol phosphate kinase 1γ RRP readily releasable pool SGIP1α SH3-containing GRB2-like protein 3-interacting protein1α SNARE soluble N-ethylmaleimide sensitive factor attachment protein receptor SV synaptic vesicle SV2A synaptic vesicle glycoprotein 2A Syt1 synaptotagmin-1 vGAT vesicular GABA transporter vGLUT vesicular glutamate...

Spinal Muscular Atrophy (SMA) is caused by mutations and deletions within the survival motor neuron 1 (SMN1) gene causing a motor neuron disease with childhood onset. SMA is clinically classified into different types (I-IV) which vary in their severity, with the most important modifier being copy number of the telomeric copy of the gene termed survival motor neuron 2 (SMN2). Three treatments have now been approved for SMA which all aim to increase functional SMN levels [1–4].