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Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere

Heterozygous (HET) truncating variant mutations in the TTN gene (TTNtvs), encoding the giant titin protein, are the most common genetic cause of dilated cardiomyopathy (DCM). However, the molecular mechanisms by which TTNtv mutations induce DCM are controversial. Here, we studied 127 clinically iden...

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Principais autores: Dalma Kellermayer, Hedvig Tordai, Balázs Kiss, György Török, Dániel M. Péter, Alex Ali Sayour, Miklós Pólos, István Hartyánszky, Bálint Szilveszter, Siegfried Labeit, Ambrus Gángó, Gábor Bedics, Csaba Bödör, Tamás Radovits, Béla Merkely, Miklós S.Z. Kellermayer
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2024-01-01
Serier:The Journal of Clinical Investigation
Fag:
Cardiology
Muscle biology
Online adgang:https://doi.org/10.1172/JCI169753
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