NeurosciencebioRxivPreprint
The Alzheimer's-Associated SORL1 p.Y1816C Variant Impairs APP Sorting, Axonal Trafficking, and Neuronal Activity in iPSC-Derived Brain Models
Jan Raška, Miriam Satkova, Klára Plešingrová…·Dáša Bohačiaková
This study investigates the effects of the SORL1 p.Y1816C variant on neuronal function using iPSC-derived models, showing impaired SORLA maturation, altered APP processing, and disrupted axonal transport and electrophysiology.