Associated Papers
Tafazzin regulates neutrophil maturation and inflammatory response.
Zakrzewski P et al.
Embo Reports, 2025
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.
Sniezek Carney O et al.
Human Molecular Genetics, 2025
High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome.
Byeon SK et al.
Mitochondrion, 2021
Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
Anzmann AF et al.
The Journal of Biological Chemistry, 2021
34314685 (PubMed )
Supplement: mmc1.pdf
Defining functional classes of Barth syndrome mutation in humans.
Lu YW et al.
Human Molecular Genetics, 2016
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.
Hijikata A et al.
Meta Gene, 2015
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
Steward CG et al.
Prenatal Diagnosis, 2010
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
Bissler JJ et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
D'Adamo P et al.
American Journal of Human Genetics, 1997
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