Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin ( <i>ttn.2</i> ) Variants
Our data suggest that cardiac and skeletal muscle dysfunction associated with truncating <i>ttn.2</i> variants is influenced by age, variant location, and the amount of functional titin protein. The distinctive phenotype associated with distal C-terminal truncations may reflect different requirements for C-terminal titin for maintenance of fast, slow, and cardiac muscle sarcomeres.
Authors
- Renee Chand
- Mark Holt (ORCID: https://orcid.org/0000-0001-7775-8539)
- Inken G. Huttner
- Jasmina Cvetkovska
- K. A. Smith (ORCID: https://orcid.org/0000-0002-8283-9760)
- Yaniv Hinits (ORCID: https://orcid.org/0000-0002-2682-1603)
- Ailbhe O Brien
- Pauline M. Bennett (ORCID: https://orcid.org/0000-0001-5754-0081)
- Celine Santiago (ORCID: https://orcid.org/0000-0002-1549-3667)
- Louis W. Wang
- Melissa A. B. Amerudin (ORCID: https://orcid.org/0009-0006-1168-2870)
- Mathias Gautel
- Gunjan Trivedi
- Xiaoping Yang
- Diane Fatkin
Institutions
- The University of Melbourne (AU)
- King's College London (GB)
- Victor Chang Cardiac Research Institute (AU)
- UNSW Sydney (AU)
- British Heart Foundation (GB)
- St Vincent's Hospital Sydney (AU)
- MRC Laboratory for Molecular Cell Biology (GB)
- RMIT University (AU)
Publication Details
- Journal
- Circulation Research
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1161/circresaha.124.325999
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00