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Nuffield Department of Clinical Medicine
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Wyatt Yue
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) [1], 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 [2]. 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