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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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Príomhchruthaitheoirí: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: American Society for Clinical Investigation 2024-01-01
Sraith:The Journal of Clinical Investigation
Ábhair:
Cardiology
Muscle biology
Rochtain ar líne:https://doi.org/10.1172/JCI169753
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