Nuclear pore complexes (NPCs) mediate the molecular excchange between the nucleus and cytoplasm of eukaryotic cells. NPCs are composed of a set of about 30 different proteins, called nucleoporins (or Nups). Nucleocytoplasmic transport is essential for normal cellular function and was for long thought to be the only function of the NPC. However, in the past years it became evident that NPCs have functions beyond nucleocytoplasmic transport. For example, they appear to also directly control gene expression due to a physical association of genes with a set of the nucleoporins. Due to their interaction with distinct NE proteins, NPCs are also directly or indirectly implicated in maintaining an overall intact nuclear organisation. Moreover, many nucleoporins have functions in mitosis, for example in kinetochore organisation and spindle checkpoint regulation. Given this central role of NPCs and nucleoporins for sound cellular function, it is not surprising that defects in nuclear transport as well as dysfunction of nucleoporins have been detected in various human diseases, such as cancer and autoimmune diseases. The current centre of our research aims at understanding the role of nucleoporins in distinct human diseases, namely acute myeloid leukaemia and foetal akinesia.
Distinct imaging techniques, ranging from epifluorescence microscopy to confocal and super-resolution imaging; Live cell imaging; Transmission electron microscopy, including immuno-gold labelling; Flow cytometry, including cell sorting.
Genome-editing (zinc-finger nuclease, CRISPR/Cas9)
Cryo-electron tomography; X-ray crystallography; Mass-spectrometry; Biophysical methods
Fahrenkrog et al., 2016, Expression of Leukemia-Associated Nup98 Fusion Proteins Generates an Aberrant Nuclear Envelope Phenotype, PLoS One 11:e0152321
Duheron et al., 2014, Structural characterization of altered nucleoporin Nup153 expression in human cells by thin-section electron microscopy, Nucleus 5: 601-612
Pante and Fahrenkrog, 2014, Exploring Nuclear Pore Complex Molecular Architecture by Immuno-Electron Microscopy Using Xenopus Oocytes, Methods Cell Biol. 122: 81-98
Lussi et al., 2011, The nucleoporin Nup88 is interacting with nuclear lamin A, Mol. Biol. Cell 22: 1080-1090