Investigation of Nuclear Pore Complex Alterations in ALS/FTD

Alterations in nucleocytoplasmic transport (NCT) have emerged as a prominent pathomechanism underlying multiple neurodegenerative diseases. However, the precise mechanism by which NCT is disrupted in neurodegeneration remains largely unknown. We will use iPSC technology and a combination of molecular, biochemical, and imaging approaches to determine cell type specific alterations in and the effect of ALS/FTD associated mutations on nuclear pores.