Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due toTTNmutations

• DOI: 10.1126/scitranslmed.abd3079
• Publication Date: 2021-11-03T17:54:11Z
• Authors: Andrey Fomin; Anna Gärtner; Lukas Cyganek; Malte Tiburcy; Izabela Tuleta; Luisa Wellers; Lina Folsche; Anastasia J. Hobbach; Marion von Frieli...; Andreas Unger; Anna Hucke; Franziska Koser; Astrid Kassner; Katharina Sielemann; Katrin Streckfuß-...; Gerd Hasenfuss; Alexander Goedel; Karl-Ludwig Laugwitz; Alessandra Moretti; Jan F. Gummert; Cristobal G. dos ...; Holger Reinecke; Ralph Knöll; Sebastiaan van He...; Norbert Hubner; Wolfram H. Zimmer...; Hendrik Milting; Wolfgang A. Linke
• Keywords: 0301 basic medicine; 03 medical and health sciences; Induced Pluripotent Stem Cells; Mutation; Heart Transplantation; Humans; Connectin; Myocytes, Cardiac; Haploinsufficiency; Cardiomyopathies; Tissue Donors; 3. Good health

Stable expression of truncated titin proteins and titin haploinsufficiency characterizeTTNcardiomyopathy and represent targets for therapy.