The translational research line aims at elucidating novel genetic and metabolic disorders related to N-linked and O-linked protein glycosylation and disorders of Golgi trafficking. More specifically, our laboratories have been successfully used linkage analysis and next generation sequencing to discover novel diseases (ATP6V0A2-CDG, SRD5A3-CDG, PGM1-CDG) and evaluate the metabolic defect related to the gene defect to understand the underlying pathomechanism.
The clinical research line focuses on novel therapeutic approaches in CDG, including the role of dietary intervention and the role of organ transplantation in CDG.
1. V-ATPase function and assembly in ATP6V0A2 defect and cutis laxa
2. Next generation sequencing in unsolved glycosylation defects
3. Therapeutic and dietary intervention in PGM1-CDG
4. Metabolic cutis laxa syndrome
5. Novel diagnostic methods in disorders of glycosylation
This research line is in close network with the Nijmegen Center for Congenital Disorders of Glycosylation, in collaboration with Dirk Lefeber, PhD, Ron A. Wevers, PhD, and PhD graduate students Thatjana Gardeitchik, MD, and Miski Mohamed, MD.
Eva Morava, MD, PhD
Kyle Scott, MSc
Tess Gadomski, BSc
Ron Crandall, BSc
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