Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development
Functional analysis of neuronal activity reveals delayed synaptic maturation in loss-of-function mutations and insights into how KIF1A mutations with distinct molecular-level impacts lead to significant downstream synaptic deficits in human neurons.
Jayne Aiken, Carris Borland, Nicolas Marotta et al.
· Journal of Cell Biology · 0 citations