Login

Lina Folsche

ORCID: 0000-0003-3752-170X
Publications
Citations
Views
---
Saved
---
About
Contact & Profiles
A5000373365
Research Areas
  • Muscle Physiology and Disorders
  • Congenital heart defects research
  • Cardiomyopathy and Myosin Studies

University of Münster
 2021

 Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
OPENALEX - Publications 
Andrey Fomin Anna Gärtner Lukas Cyganek Malte Tiburcy Izabela Tuleta and 23 more Luisa Wellers Lina Folsche Anastasia J. Hobbach Marion von Frieling-Salewsky Andreas Unger Anna Hucke Franziska Koser Astrid Kassner Katharina Sielemann Katrin Streckfuß‐Bömeke Gerd Hasenfuß Alexander Goedel Karl‐Ludwig Laugwitz Alessandra Moretti Jan Gummert Cristobal G. dos Remedios Holger Reinecke Ralph Knöll Sebastiaan van Heesch Norbert Hübner Wolfram H. Zimmermann Hendrik Milting Wolfgang A. Linke

Heterozygous truncating variants in TTN (TTNtv), the gene coding for titin, cause dilated cardiomyopathy (DCM), but underlying pathomechanisms are unclear and disease management remains uncertain. Truncated titin proteins have not yet been considered as a contributor to development. Here, we studied myocardial tissues from nonfailing donor hearts 113 patients with end-stage DCM expression identified TTNtv 22 (19.5%). We directly demonstrate haploinsufficiency TTNtv-DCM absence of...

10.1126/scitranslmed.abd3079 article EN Science Translational Medicine 2021-11-03
Coming Soon ...