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Title:

Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.

Document type:
Article; Journal Article
Author(s):
Fomin, Andrey; Gärtner, Anna; Cyganek, Lukas; Tiburcy, Malte; Tuleta, Izabela; Wellers, Luisa; Folsche, Lina; Hobbach, Anastasia J; von Frieling-Salewsky, Marion; Unger, Andreas; Hucke, Anna; Koser, Franziska; Kassner, Astrid; Sielemann, Katharina; Streckfuß-Bömeke, Katrin; Hasenfuss, Gerd; Goedel, Alexander; Laugwitz, Karl-Ludwig; Moretti, Alessandra; Gummert, Jan F; Dos Remedios, Cristobal G; Reinecke, Holger; Knöll, Ralph; van Heesch, Sebastiaan; Hubner, Norbert; Zimmermann, Wolfram H; Miltin...     »
Abstract:
Heterozygous truncating variants in TTN (TTNtv), the gene coding for titin, cause dilated cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease management remains uncertain. Truncated titin proteins have not yet been considered as a contributor to disease development. Here, we studied myocardial tissues from nonfailing donor hearts and 113 patients with end-stage DCM for titin expression and identified a TTNtv in 22 patients with DCM (19.5%). We directly demonstrate ti...     »
Journal title abbreviation:
Sci Transl Med
Year:
2021
Journal volume:
13
Journal issue:
618
Fulltext / DOI:
doi:10.1126/scitranslmed.abd3079
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34731013
Print-ISSN:
1946-6234
TUM Institution:
Arbeitsgruppe Tissue Engineering und Regenerative Medizin; Klinik und Poliklinik für Innere Medizin I, Kardiologie
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