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
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Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]
Genes (Basel)Barth syndrome (BTHS) is inherited through an X-linked pattern. The gene is located on Xq28. Male individuals who inherit the TAFAZZIN pathogenic variant will have the associated condition, while female individuals who inherit the TAFAZZIN pathogenic ...
Sergi CM.
europepmc +4 more sources
Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome. [PDF]
Int J Mol SciBarth Syndrome (BTHS) is an early onset, lethal X-linked disorder caused by a mutation in tafazzin (TAFAZZIN), a mitochondrial acyltransferase that remodels monolysocardiolipin (MLCL) to mature cardiolipin (CL) and is essential for normal mitochondrial ...
Raghav R +5 more
europepmc +4 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
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 +20 more sources
Mitochondrial cardiolipin metabolism controlled by tafazzin enables ferroptosis
bioRxivAbstractMitochondria 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 mitochondrial ROS levels.
Wohlfarter Y +17 more
europepmc +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
doaj +3 more sources
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome. [PDF]
Hum Mol GenetBarth syndrome (BTHS) is a rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN, which leads to abnormal cardiolipin (CL) metabolism on the inner mitochondrial membrane.
Sniezek Carney O +8 more
europepmc +3 more sources
Phenotypic Characterization of Male Tafazzin-Knockout Mice at 3, 6, and 12 Months of Age
Biomedicines, 2023 Barth syndrome (BTHS) is an X-linked mitochondrial disease caused by mutations in the gene encoding for tafazzin (TAZ), a key enzyme in the remodeling of cardiolipin.
Michelle V. Tomczewski +4 more
doaj +2 more sources
Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. [PDF]
Prenat DiagnTo report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Muir CR, Gilmore KL, Singh S, Vora NL.
europepmc +2 more sources