Role of Hippo Pathway Effector Tafazzin Protein in Maintaining Stemness of Umbilical Cord-Derived Mesenchymal Stem Cells (UC-MSC) [PDF]
International Journal of Hematology-Oncology and Stem Cell Research, 2018 Tafazzin (TAZ) protein has been upregulated in various types of human cancers, although the basis for elevation is uncertain, it has been made definite that the effect of mutation in the hippo pathway, particularly when it is switched off, considerably ...
Madhumala Gopinath +11 more
doaj +3 more sources
Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells [PDF]
Microbial Cell, 2018 Cardiolipin (CL) optimizes diverse mitochondrial processes, including oxidative phosphorylation (OXPHOS). To function properly, CL needs to be unsaturated, which requires the acyltransferase Tafazzin (TAZ). Loss-of-function mutations in the TAZ gene are responsible for the Barth syndrome (BTHS), a rare X-linked cardiomyopathy, presumably because of a ...
de Tilques, Maxence de Taffin +10 more
openaire +8 more sources
Pharmacological increases in circulating ketones fail to alleviate the hypertrophic cardiomyopathy present in the Tafazzin knockdown mouse model of Barth syndrome [PDF]
Journal of Pharmacy & Pharmaceutical SciencesObjectiveMutations in the tafazzin gene lead to impaired remodeling of cardiolipin, thereby impairing mitochondrial function and causing Barth syndrome (BTHS), a rare X-linked genetic disorder characterized by cardiomyopathy.
Tanin Shafaati +40 more
doaj +2 more sources
Aim24 and MICOS modulate respiratory function, tafazzin-related cardiolipin modification and mitochondrial architecture [PDF]
eLife, 2014 Structure and function of mitochondria are intimately linked. In a search for components that participate in building the elaborate architecture of this complex organelle we have identified Aim24, an inner membrane protein. Aim24 interacts with the MICOS
Max Emanuel Harner +10 more
doaj +3 more sources
Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice [PDF]
Scientific Reports, 2022 Barth Syndrome (BTHS), a genetic disease associated with early-onset cardioskeletal myopathy, is caused by loss-of-function mutations of the TAFAZZIN gene, which is responsible for remodeling the mitochondrial phospholipid cardiolipin (CL).
Silvia Russo +4 more
doaj +2 more sources
Frontiers in Molecular MedicineBarth Syndrome (BTHS) is a rare X-linked disease, characterized clinically by cardiomyopathy, skeletal myopathy, neutropenia, and growth retardation. BTHS is caused by mutations in the phospholipid acyltransferase tafazzin (Gene: TAFAZZIN, TAZ). Tafazzin
Malte Hachmann +11 more
doaj +2 more sources
Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. [PDF]
Prenat DiagnABSTRACT Objective To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome. Methods A 32‐year‐old G4P2011 patient was ...
Muir CR, Gilmore KL, Singh S, Vora NL.
europepmc +3 more sources
Mitochondrial cardiolipin metabolism controlled by tafazzin enables ferroptosis
Abstract Mitochondria are important producers of reactive oxygen species, which are involved in triggering ferroptosis, a lipid peroxidation driven form of cell death. Paradoxically, in the rare inherited metabolic disease Barth Syndrome, we discovered a protection from erastin-induced ferroptosis, despite intrinsically elevated ...
Wohlfarter Y +17 more
europepmc +2 more sources
Tafazzin senses curvature [PDF]
Nature Chemical Biology, 2012 The phospholipid-lysophospholipid transacylase tafazzin is responsible for enrichment of the cardiolipin fraction of mitochondria with tetralinoleoyl-cardiolipin. The specificity for linoleoyl hydrocarbon chains is now explained by the specific action of tafazzin on negatively curved lipid monolayers.
Michael, Schlame +7 more
openaire +5 more sources
The Enzymatic Function of Tafazzin [PDF]
Journal of Biological Chemistry, 2006 Tafazzin is a putative enzyme that is involved in cardiolipin metabolism, it may carry mutations responsible for Barth syndrome. To identify the biochemical reaction catalyzed by tafazzin, we expressed the full-length isoform of Drosophila melanogaster tafazzin in a baculovirus-Sf9 insect cell system.
Yang, Xu +3 more
openaire +2 more sources