Low expression of the K280N TNNT2 mutation is sufficient to increase basal myofilament activation in human hypertrophy cardiomyopathy

Low expression of the K280N TNNT2 mutation is sufficient to increase basal myofilament activation in human hypertrophy cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disorder with patients typically showing heterozygous inheritance of a pathogenic variant in a gene encoding a contractile protein. Here, we study the contractile effects of a rare homozygous mutation using explanted tiss...

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Bibliographic Details
Main Authors: Vasco Sequeira, Lili Wang, Paul J.M. Wijnker, Kyungsoo Kim, Jose R. Pinto, Cris dos Remedios, Charles Redwood, Bjorn C. Knollmann, Jolanda van der Velden
Format: Article
Language:English
Published: Elsevier 2022-09-01
Series:Journal of Molecular and Cellular Cardiology Plus
Subjects:
Hypertrophic cardiomyopathy
Troponin T
Protein toxic threshold
Myofilament Ca2+-sensitivity
hiPSC-CM
Online Access:http://www.sciencedirect.com/science/article/pii/S2772976122000010

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http://www.sciencedirect.com/science/article/pii/S2772976122000010

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