Human Glycosylation Disorders
contact D.lefeber@cukz.umcn.nl
The glyco-oriented research is performed in the unit Glycosylation disorders & Lysosomal enzymes. This unit is located in the laboratory of Pediatrics& Neurology which has a strong focus on the biochemistry of genetic diseases. With respect to patient diagnostics, we can offer the whole range of screening assays for these two classes of disorders and routine measurements of various enzymes for determination of a primary enzyme deficiency. For questions and request forms, please check our website or contact us directly.
Research
Our research focuses on the development of analytical tools to investigate and identify new (genetic) glycosylation disorders in human. Several techniques are currently used or are in development:
- Electroforetic separation and detection of serum/fibroblast/muscle glycoproteins using isofocusing and SDS-PAGE with immunoprecipitation, western blotting or lectin blotting
- Enzymatic determination of glycosyltransferase activities
- Lectin and glycan-specific antibody staining of tissues
- Methods for N- and O-glycan release from human specimen
- N- and O-glycan analysis by mass spectrometry (Maldi-LTQ or FT-ICR-MS)
- Analysis of protein glycosylation by FT-ICR-MS with ECD and IRMPD modules
Apart from these (bio)chemical tools, our group collaborates with the glycogenetics group to elucidate the primary genetic defect in patients with glycosylation abnormalities, using e.g. homozygosity mapping with SNP arrays.