We are interested in understanding how defects in nuclear envelope proteins lead to cardiomyopathy. We combine multi-disciplinary, state-of-the-art approaches using cells and model organisms to elucidate the key underlying mechanisms.
Specifically…
…we use structural biology techniques to reveal how mutations in nuclear envelope proteins affect folding…
…we use structural biology techniques to reveal how mutations in nuclear envelope proteins affect folding…
Myoblast stained for a nuclear envelope protein (green), the nuclear lamina (red) and DNA (blue). Super-resolution image generated using the Deltavision OMX System.
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…and combine this with cell biology and biochemistry, to understand the functional consequences of these mutations at cellular and tissue levels…
Neonatal heart before (left) and after being stained (middle, right panels), for heart cells (red), dying cells (green) and DNA (blue).
…in addition to using physiological approaches for monitoring heart function of model organisms that are engineered to mimic the cardiomyopathy-causing mutations found in patients.
Short axis view of the heart using echocardiography, with sizes of the chambers (LVIDd and LVIDs), wall thicknesses (IVSd, LVPWd), function (FS) and heart rate (HR) indicated.
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Our funding is kindly provided by:
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