Welcome to Katja Benedikte Prestø Elgstøen's research group:

Metabolic Molecular Biology

 
Katja BP Elgstøen<br>Group leader
Katja BP Elgstøen
Group leader

Challenges
The main focus of our research is to unravel the underlying mechanisms of inborn errors of metabolism (mainly monogenetic diseases). Recruitment of cases occurs through our national laboratory for metabolic diseases. We identify disease provoking mutations, assisted by Sanger and exome sequencing, study metabolic pathways by isotope labeling, predict the effect of mutations upon protein structure and measure function in wild type and mutated proteins.

Projects

  • Metabolomics
  • Covariate-corrected reference intervals
  • Genetics of inborn errors of metabolism
  • Mitochondrial iron proteins
  • Glycosylation defects
  • Metabolic pathways by isotope labeling
  • DNA damage and tumor genesis in inborn errors of metabolism


Contact information
Group leader Katja B. P. Elgstøen MSc PhD - Department of Medical Biochemistry - Oslo University Hospital Rikshospitalet - PO Box 4950 Nydalen - NO-0424 Oslo, Norway - Tel: +47 23073079 - Fax: +47 23070902 - E-mail: katja.elgstoen@ous-hf.no