Article
Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region.
Proceedings of the National Academy of Sciences of the United States of America - 17 Oct 2017
Gangadharan Binnu, Sunitha Margaret S, Mukherjee Souhrid, Chowdhury Ritu Roy, Haque Farah, Sekar Narendrakumar, Sowdhamini Ramanathan, Spudich James A, Mercer John A
Abstract excerpt
Point mutations in genes encoding sarcomeric proteins are the leading cause of inherited primary cardiomyopathies. Among them are mutations in the TNNT2 gene that encodes cardiac troponin T (TnT). These mutations are clustered in the tropomyosin (Tm) binding region of TnT, TNT1 (residues 80-180). To understand the mechanistic changes caused by pathogenic mutations in the TNT1 region, six hypertrophic...
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