Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion

Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion

Barth syndrome (BTHS) is caused by mutations in tafazzin resulting in deficits in cardiolipin remodeling that alter major metabolic processes. The tafazzin gene is encoded on the X chromosome, and therefore BTHS primarily affects males. Female carriers are typically considered asymptomatic, but age-...

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Bibliographic Details
Main Authors: Michelle V. Tomczewski, John Z. Chan, Duaa M. Al-Majmaie, Ming Rong Liu, Alex D. Cocco, Ken D. Stark, Douglas Strathdee, Robin E. Duncan
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Biology
Subjects:
tafazzin
cardiolipin
Barth syndrome
mitochondria
energy metabolism
exercise capacity
Online Access:https://www.mdpi.com/2079-7737/12/9/1238

Internet

https://www.mdpi.com/2079-7737/12/9/1238

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