Article
Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn.2) Variants.
Circulation research - 30 Jan 2026
Santiago Celine F, Huttner Inken G, O'Brien Ailbhe K, Amerudin Melissa A B, Bennett Pauline M, Cvetkovska Jasmina, Chand Renee, Holt Mark, Trivedi Gunjan, Wang Louis W, Yang Xiaoping, Smith Kelly A, Gautel Mathias, Fatkin Diane, Hinits Yaniv
Abstract excerpt
BACKGROUND: Truncating variants in the TTN gene (TTNtv), encoding the giant sarcomeric protein titin, cause a range of human cardiac and skeletal muscle disorders of varying penetrance and severity. The effects of variant location on clinical manifestations are incompletely understood. METHODS: We generated 6 zebrafish lines carrying truncating ttn.2 variants in the Z-disk, I-band, A-band, and M-band titin...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.