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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Hlavní autoři:	Michelle V. Tomczewski, John Z. Chan, Duaa M. Al-Majmaie, Ming Rong Liu, Alex D. Cocco, Ken D. Stark, Douglas Strathdee, Robin E. Duncan
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2023-09-01
Edice:	Biology
Témata:	tafazzin cardiolipin Barth syndrome mitochondria energy metabolism exercise capacity
On-line přístup:	https://www.mdpi.com/2079-7737/12/9/1238
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