Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G197V
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TAFAZZIN

NM_000116.5:p.G197V

Associated Papers

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.

Passadouro AS et al.

Embo Molecular Medicine, 2025

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome.

Kutschka I et al.

Basic Research in Cardiology, 2023

Metabolic switch from fatty acid oxidation to glycolysis in knock-in mouse model of Barth syndrome.

Chowdhury A et al.

Embo Molecular Medicine, 2023

Clinical presentation and natural history of Barth Syndrome: An overview.

Taylor C et al.

Journal of Inherited Metabolic Disease, 2022

Defective Mitochondrial Cardiolipin Remodeling Dampens HIF-1α Expression in Hypoxia.

Chowdhury A et al.

Cell Reports, 2018

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome.

Dudek J et al.

Embo Molecular Medicine, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."