Our work is focused on peroxisomal biogenesis, which includes de novo formation of peroxisomes, peroxisomal protein import, and peroxisomal biogenesis disorders (PBD). Defects in peroxisomal biogenesis can be linked to mutations in so called PEX genes and cause a group of inherited diseases like rhizomelic chondrodysplasia punctata and the different forms of the Zellweger spectrum, which, in severe cases, can be lethal in the first year of life. We use human fibroblasts of PBD patients as model system or in vitro systems and try to elucidate the molecular mechanisms of peroxisomal biogenesis and dynamics by investigating protein interactions, structure, and function of different involved proteins.
- Peroxisome biogenesis
- Membrane protein import
- Matrix protein import
- Peroxisome maintenance and degradation