Article
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes.
Disease models & mechanisms - 1 May 2025
Yazawa Erika, Keating Erin M, Wang Suya, Sweat Mason E, Ma Qing, Xu Yang, Schlame Michael, Pu William T
Abstract excerpt
Barth syndrome is a mitochondrial disorder with hallmarks of cardiac and skeletal muscle weakness. It is caused by pathogenic variants in the X-linked gene tafazzin (TAZ), required for cardiolipin remodeling. Previously described germline and conditional Taz knockout models are not ideal for therapeutic development because they lack the combination of robust survival to adulthood, cardiomyopathy and skeletal...
Topics
- Animals
- Barth Syndrome
- Muscle, Skeletal
- Disease Models, Animal
- Myocardium
- Phenotype
- Humans
- Mice, Knockout
- Cardiolipins
- Acyltransferases
- Transcription Factors