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Cytoskeletal Regulators in Health and Disease

Aikaterini Kontrogianni-Konstantopoulos, Ph.D.
Department of Biochemistry and Molecular Biology
University of Maryland School of Medicine

Using the muscle and epithelial cells as model systems, my group has been studying the cytoskeleton as structural and signaling mediator in health and disease. This seminar will focus on the roles of two modular and multifaceted families of proteins the giant obscurins and their binding partner slow Myosin Binding Protein-C (sMyBP-C). Using complementary in vitro, ex vivo and in vivo approaches, we show that obscurins and sMyBP-C play key roles in filament assembly and stabilization, Ca2+ homeostasis, contractility, cell adhesion, and growth/survival pathways. Consistent with their involvement in several cellular processes, mutations in the OBSCN (encoding obscurins) and MYBPC1 (encoding sMyBP-C) genes have been causatively linked to severe and lethal diseases including skeletal and cardiac myopathies as well as cancer. We have therefore generated a number of disease models carrying truncated or mutant obscurins and sMyBP-C aiming to decipher the molecular and cellular alterations that lead to disease pathogenesis with the ultimate goal of designing new therapies in the form of rescue peptides and/or CRISPR technology.

Host: Yuhong Fan

Event Details


  • Thursday, November 14, 2019
    10:55 am
Location: Room 1005, Roger A. and Helen B. Krone Engineered Biosystems Building (EBB), 950 Atlantic Dr NW, Atlanta, GA 30332

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  • Aikaterini Kontrogianni-Konstantopoulos, Ph.D.

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