Article
Titin-truncating mutations associated with dilated cardiomyopathy alter length-dependent activation and its modulation via phosphorylation.
Cardiovascular research - 7 Jan 2022
Vikhorev Petr G, Vikhoreva Natalia N, Yeung WaiChun, Li Amy, Lal Sean, Dos Remedios Cristobal G, Blair Cheavar A, Guglin Maya, Campbell Kenneth S, Yacoub Magdi H, de Tombe Pieter, Marston Steven B
Abstract excerpt
AIMS: Dilated cardiomyopathy (DCM) is associated with mutations in many genes encoding sarcomere proteins. Truncating mutations in the titin gene TTN are the most frequent. Proteomic and functional characterizations are required to elucidate the origin of the disease and the pathogenic mechanisms of TTN-truncating variants. METHODS AND RESULTS: We isolated myofibrils from DCM hearts carrying truncating TTN...
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