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Analysis of shotgun proteomics datasets

Analysis of shotgun proteomics datasets. Federica Montanaro Center for Gene Therapy September 13, 2011. Dystrophin – 427kDa. Membrane anchoring. Lipid interactions. Signaling pathways. Actin filaments. Diseases associated with dystrophin. Duchenne Muscular Dystrophy Childhood onset

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Analysis of shotgun proteomics datasets

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  1. Analysis of shotgun proteomics datasets Federica Montanaro Center for Gene Therapy September 13, 2011

  2. Dystrophin – 427kDa Membrane anchoring Lipid interactions Signaling pathways Actin filaments

  3. Diseases associated with dystrophin • Duchenne Muscular Dystrophy • Childhood onset • Progressive loss of muscle function • Cardiomyopathy • Becker Muscular Dystrophy • Teen/Adult onset • Progressive loss of muscle function • Cardiomyopathy • X-Linked Dilated Cardiomyopathy • Teen/Adult onset • Severe cardiomyopathy

  4. Will Ray Modeling spectrin repeat structure Repeat B Repeat A Helix 1 Helix 2 Helix 1 Helix 2 Folded

  5. Modeling of mutations P = 0.002 36.5 years 25.5 years 70 60 50 40 Age (years) 30 20 10 Hinge 3 0 IN OUT Spectrin Repeat Phasing New hinge

  6. Revisiting dystrophin’s interactome

  7. Piecing the puzzle together Vimentin Vinculin Mia3 ? Ahnak Tfg Mek Cypher Citro Cryab Desmin

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