Our main interest is to understand principles of RNA-mediated gene regulation and its contribution to pathologies. Our research tools include structural biology and biophysics, RNA and protein biochemistry as well as various aspects of cell biology. In addition, we run the X-ray crystallography platform at HMGU. Furthermore, we are also closely interacting with our partner lab at the Ulm University [website].


Our main interests in RNA-mediated disorders:

PURA Syndrome:
PURA is an ubiquitously expressed protein with enrichment in the brain. Sporadic mutations in its gene result in the rare neurodevelopmental disorder PURA Syndrome. We are closely interacting with the patient-organization PURA Syndrome Foundation to understand which molecular and cellular pathways are affected in this disorder and result in the patient's symptoms. Towards this goal, we combine our classical structural and biochemical approaches with cell-culture studies, including iPSC-based analyses, and various omics approaches. In addition, we are building up a
PURA Biobank to foster research with patient-derived material.
FIG. 1: ASH1 mRNA transport complex. Taken from Heym & Niessing, Cell Mol Life Sci (2012).

Poly-glutamine diseases:
These diseases are caused by pathologically expanded trinucleotide repeats in disease-related genes that are translated into polyQ stretches. Proteins with such expanded polyQ stretches tend to form neurotoxic aggregates. Together with our collaboration partners at the RWTH Aachen, we are characterizing the therapeutic potential of a novel drug target towards a preventive treatment of affected patients in early stages of their disease.

RNA regulation in T-cells:
In a close collaboration with the groups of Vigo Heissmeyer (AMIR @ HMGU) and Michael Sattler (STB @ HMGU), we aim to understand how the RNA-binding protein Roquin and its cofactors regulate the expression of co-stimulatory receptors. A mutation in Roquin has been recently shown to cause autoimmune-like symptoms, indicating the importance of understanding how Roquin and its partners regulate the strengh of immune responses.

The X-ray Crystallography Plattform is run by our group. It is used for high-resolution structure determination of proteins and co-complexes with other proteins, nucleic acids or small inhibitory molecules. A range of collaborations and publications has emerged from this activity.