Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments

TNNI3 encoding cTnI, the inhibitory subunit of the troponin complex, is the main target for mutations leading to restrictive cardiomyopathy (RCM). Here we investigate two cTnI-R170G/W amino acid replacements, identified in infantile RCM patients, which are located in the regulatory C-terminus of cTn...

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Published in:PLoS One
Main Authors: Cimiotti, Diana, Fujita-Becker, Setsuko, Möhner, Desirée, Smolina, Natalia, Budde, Heidi, Wies, Aline, Morgenstern, Lisa, Gudkova, Alexandra, Sejersen, Thomas, Sjöberg, Gunnar, Mügge, Andreas, Nowaczyk, Marc M., Reusch, Peter, Pfitzer, Gabriele, Stehle, Robert, Schröder, Rasmus R., Mannherz, Hans G., Kostareva, Anna, Jaquet, Kornelia
Format: Artigo
Language:Inglês
Published: Public Library of Science 2020
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7077804/
https://ncbi.nlm.nih.gov/pubmed/32182250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0229227
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