Journal article
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations
E Purevjav, T Arimura, S Augustin, AC Huby, K Takagi, S Nunoda, DL Kearney, MD Taylor, F Terasaki, JM Bos, SR Ommen, H Shibata, M Takahashi, M Itoh-satoh, WJ Mckenna, RT Murphy, S Labeit, Y Yamanaka, N Machida, JE Park Show all
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2012
DOI: 10.1093/hmg/dds022
Abstract
Abnormalities in Z-disc proteins cause hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM), but disease-causing mechanisms are not fully understood. Myopalladin (MYPN) is a Z-disc protein expressed in striated muscle and functions as a structural, signaling and gene expression regulating molecule in response to muscle stress. MYPN was genetically screened in 900 patients with HCM, DCM and RCM, and disease-causing mechanisms were investigated using comparative immunohistochemical analysis of the patient myocardium and neonatal rat cardiomyocytes expressing mutant MYPN. Cardiac-restricted transgenic (Tg) mice were generated and protein-protein interactions were evaluated...
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Awarded by National Institutes of Health
Funding Acknowledgements
This work was supported in part by a Postdoctoral Fellowship and Beginning-Grant-in-Aid from the American Heart Association (E.P.), the Children's Cardiomyopathy Foundation (E.P., J.A.T.), the John Patrick Albright Foundation (J.A.T.) and NIH R01 HL53392, The Pediatric Cardiomyopathy Registry and R01 HL087000, The Pediatric Cardiomyopathy Specimen Repository (J.A.T.), Grant-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology and grants from the Ministry of Health, Labour and Welfare, Japan; grants for Japan-France and Japan-Korea collaboration research from the Japan Society for the Promotion of Science; and grants from the Life Science Institute and Association Francaise contre les Myopathies, France (A.K., T.A.); the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program (M.J.A.).