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Principal Investigator: Dr. Kevin P. Campbell
Dr. Campbell is using patient cells with known mutations to investigate the molecular pathogenesis of the dystroglycanopathies and evaluate various mechanistic defects that lead to abnormalities in dystroglycan glycosylation.
This project will investigate the molecular pathogenesis of the dystroglycanopathies using patient cells and state-of-the-art biological, cell biological and glycobiological approaches. Proposed studies will establish the in vivo relevance of the LARGE repeats on α-DG in skeletal muscle and define the ligand- and antibody-binding properties of LARGE repeats. The post-translational modification status of α-DG in various dystroglycanopathies will be established to improve our understanding of the modifications that will be required to improve muscle function. Finally, the roles of specific enzymes involved in the post-translational processing of α-DG will be determined in patient cells with defined mutations in order to establish a framework for the development of novel therapeutic strategies based on the functional defects.
Dr. Campbell's Research Laboratory Website
Dr. Campbell's Department of Molecular Physiology & Biophysics Website
Dr. Campbell's HHMI Investigator Website
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