Nuffield Department of Clinical Medicine
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Protein Science and Structural Biology
We explore how genetic defects lead to disease at the molecular level, by determining 3D structures and biochemical properties of metabolic enzymes and protein-protein complexes linked with inborn errors of metabolism (IEM) , a heterogeneous group of ~350 disorders with inherited defects in enzyme function and organelle biogenesis. We work closely with ‘front-line’ clinicians and pediatricians to decipher the underlying genetic, biochemical and cellular mechanisms of IEM as they are discovered . Our long-term goal is a multi-disciplinary platform to design novel therapeutic approaches (e.g. mutation-specific therapies, pharmacological chaperones), given the often severe phenotypic and pathological outcomes of IEM.
- Yue WW, Oppermann U (2011) J Inherit Metab Dis 34:575-581
- Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI et al (2010) EMBO Mol Med 2:51-62