Article
Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome.
Human molecular genetics - 5 Jun 2023
Wang Suya, Yazawa Erika, Keating Erin M, Mazumdar Neil, Hauschild Alexander, Ma Qing, Wu Haiyan, Xu Yang, Shi Xu, Strathdee Douglas, Gerszten Robert E, Schlame Michael, Pu William T
Abstract excerpt
Barth syndrome is an X-linked disorder caused by loss-of-function mutations in Tafazzin (TAZ), an acyltransferase that catalyzes remodeling of cardiolipin, a signature phospholipid of the inner mitochondrial membrane. Patients develop cardiac and skeletal muscle weakness, growth delay and neutropenia, although phenotypic expression varies considerably between patients. Taz knockout mice recapitulate many of the...
Topics
- Male
- Female
- Animals
- Mice
- Barth Syndrome
- Cardiolipins
- Transcription Factors
- Disease Models, Animal
- Acyltransferases
- Mice, Knockout
- Phenotype