Structural destabilization as a trigger for hereditary disease at Biologisk Institut - Københavns Universitet

A project focus on protein destabilization in genetic disease is available in Rasmus Hartmann-Petersen’s research group at the Department of Biology, Section for Biomolecular Sciences, University of Copenhagen. Our cells are equipped with an efficient protein quality control system, which functions to clear the cell misfolded proteins by targeting them for degradation via the ubiquitin-proteasome system. However, evidence suggests that this quality control system operates by following a better-safe-than-sorry principle. Hence, proteins which are only slightly misfolded and still retain function are also degraded. Accordingly, for certain hereditary diseases, abnormal, but functional, protein variants are degraded leading to the proteins activity being lost in the cells, which then in turn triggers the disease. In a series of related projects we propose to explore the specificity of the quality control system and its relevance for a number of hereditary diseases, including certain cancer predisposition syndromes and neuronal disorders. The obtained results may provide the important first steps towards novel therapeutic approaches to these and other genetic diseases. The projects will involve genetic, biochemical and molecular biological techniques including co-immunoprecipitation, Western blotting, and various high throughput screening methods, along with various cell biological techniques, such as pulse-chase experiments and fluorescence microscopy. For more specific detail, contact Rasmus Hartmann-Petersen ( for an informal meeting. “For more information, please visit the following webpage:”.

Methods used:
Protein chemistry, Cell biology, Molecular Biology, Genetics

disease, hereditary diseases, degradation, protein degradation, folding, proteasome, genetics, cloning,
bio chemistry, bio technology, cell biology, proteins, protein chemistry,
DNA, molecular biology, neuro degenerative diseses, neuro biology,
neuro biology, gene technology, gene technology.

student at all levels focusing on Biochemistry, Molecular Biomedicine, Biotechnology, Biology or similar.

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