Nucleocytoplasmic transport and neurodegeneration:
We study the molecular mechanisms underlying human neurodegenerative diseases involving drastic damage to the central nervous system. We identified novel disease-causing mutations in nuclear pore and nuclear envelope components. Patient cells and stem cell (iPSC)-derived cellular models are being used to link the clinical symptoms in patients with specific nuclear functions. We combine super resolution and electron microscopy with biochemical and genetic methods to study these topics.