Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice. [PDF]
Frontiers in Physiology, 2013 The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers +3 more
doaj +5 more sources
Mouse tafazzin is required for male germ cell meiosis and spermatogenesis [PDF]
PLOS ONE, 2015 Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Bryson, S. +6 more
core +26 more sources
Role of Tafazzin in Mitochondrial Function, Development and Disease [PDF]
Journal of Developmental Biology, 2020 Tafazzin, an enzyme associated with the rare inherited x-linked disorder Barth Syndrome, is a nuclear encoded mitochondrial transacylase that is highly conserved across multiple species and plays an important role in mitochondrial function.
Michael T. Chin, Simon J. Conway
doaj +3 more sources
AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome [PDF]
Molecular Therapy: Methods & Clinical Development, 2019 Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano +6 more
doaj +3 more sources
The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility [PDF]
Journal of Developmental BiologyBarth syndrome (BTHS) is a rare, infantile-onset, X-linked mitochondriopathy exhibiting a variable presentation of failure to thrive, growth insufficiency, skeletal myopathy, neutropenia, and heart anomalies due to mitochondrial dysfunction secondary to ...
Paige L. Snider +5 more
doaj +5 more sources
Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion
Biology, 2023 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.
Michelle V. Tomczewski +7 more
doaj +3 more sources
Tafazzin modulates cellular phospholipid composition to regulate AML stemness [PDF]
Molecular & Cellular Oncology, 2019 Tafazzin is a mitochondrial enzyme necessary for the remodeling of the phospholipid cardiolipin. Seneviratne and Xu et al. demonstrated that Tafazzin-mediated phospholipid production regulates stemness in Acute Myeloid Leukemia (AML). Tafazzin influenced
Ayesh K. Seneviratne +2 more
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Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells [PDF]
Scientific ReportsBarth syndrome (BTHS) is a rare disorder caused by mutations in the TAFAZZIN gene. Previous studies from both patients and model systems have established metabolic dysregulation as a core component of BTHS pathology.
Zhuqing Liang +12 more
doaj +2 more sources
Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults [PDF]
Cardiogenetics, 2011 Barth syndrome is an X-linked genetic condition featuring neutropenia, skeletal myopathy, and dilated cardiomyopathy in boys due to tafazzin (TAZ) mutations.
Matthew Taylor +8 more
doaj +4 more sources
Journal of Cachexia, Sarcopenia and MuscleBackground Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function.
Catalina Matias +7 more
doaj +2 more sources