Associated Papers
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.
Sniezek Carney O et al.
Human Molecular Genetics, 2025
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
Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.
Suzuki-Hatano S et al.
International Journal of Molecular Sciences, 2019
Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.
Chatzispyrou IA et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
New targets for monitoring and therapy in Barth syndrome.
Thompson WR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies.
Saric A et al.
Frontiers in Genetics, 2015
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome.
Dudek J et al.
Stem Cell Research, 2013
Select a paper to view details