Jan Raška

The paper measures soluble SORL1 (sSORL1) in CSF to assess functional impact of rare SORL1 variants, finding lower sSORL1 in carriers of pathogenic variants.

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.

This study shows HSV-1 infection induces Aβ clustering and neurodegeneration pathways in iPSC-derived neurons, supporting the pathogen infection hypothesis for Alzheimer's disease.

The paper investigates how the C112R mutation in ApoE4 causes aggregation and shows that tramiprosate reduces this aggregation.