We have recently discovered that the glycoprotein a-dystroglycan
contains ribitolphosphate groups, unusual sugar derivatives
previously thought to exist only in bacteria.
Defects in the the incorporation of ribitolphosphate lead to
neuromuscular disease. Currently, we are trying to understand the
missing steps in biogenesis of ribitolphosphate
Cancer metabolism
Cancer cells need to undergo metabolic adaptations.
We are trying to find out whether some of
these adaptations might lead to vulnerabilities
that can be exploited therapeutically.
Metabolite repair
Many enzymes do not only act on their physiological substrate
but also on substrates that are structurally related.
This leads to the production of side-products that can be toxic to cells.
To prevent this toxicity, dedicated enzymes exist that eliminate these side-products
or convert them into useful metabolites.
In our work, we try to understand the role of these
metabolite repair enzymes in human metabolism.
miRNAs are short regulatory RNAs consisting of 18 - 24 nucleotides.
They interact with reverse complementary sequences in the 3' untranslated region
of protein-coding transcripts thereby reducing protein production.
We are investigating how miRNAs and proteins
collaborate to exert a common function.
Inherited errors of metabolism
Mutations in genes coding for enzymes can lead to devastating diseases.
Symptomatic and causal therapies for these diseases require
a thorough understanding of the role of the affect
enzymes in human metabolism.