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, Jiří Sedmík, Sona Cesnarikova, Monica Feole, Ondřej Bernatík, Victorio M. Pozo Devoto, Hana Hříbková, Kateřina Amruz Černá, Naděžda Vaškovicová, Simona Bartova, Veronika Pospíšilová, Tereza Váňová, Petr Fojtík, , 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.
bioRxiv · Jul 28, 2025 · PreprintNeuroscience