Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients.
Yuta Higashikuse, Nishant Mittal, Takuro Arimura, Sung Han Yoon, Mayumi Oda, Hirokazu Enomoto, Ruri Kaneda, Fumiyuki Hattori, Takeshi Suzuki, Atsushi Kawakami, Alexander Gasch, Tetsushi Furukawa, Siegfried Labeit, Keiichi Fukuda, Akinori Kimura, Shinji Makino
The paper identifies mutations in the titin Ig domain associated with hypertrophic cardiomyopathy in both a fish model and human patients, showing increased titin-MURF1 binding and degradation.
Disease Models & Mechanisms · Jan 1, 2019Peer-reviewedDevelopmental Biology