Results 11 to 20 of about 3,514 (179)
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 +23 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
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
doaj +3 more sources
Barth syndrome mutations that cause tafazzin complex lability [PDF]
Journal of Cell Biology, 2011 Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1.
Claypool, Steven M +4 more
core +7 more sources
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 +3 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
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 +5 more sources
Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells. [PDF]
FASEB JDeficiency of the cardiolipin remodeling enzyme TAFAZZIN causes Barth syndrome (BTHS), resulting in cardiolipin loss, monolysocardiolipin (MLCL) accumulation, and electron transport chain (ETC) abnormalities in B‐lymphoblastoid cells. Effects of the non‐psychotropic phytocannabinoid cannabidiol (CBD) were examined on B‐lymphoblastoid cells from ...
Chan JZ +10 more
europepmc +2 more sources