Results 11 to 20 of about 2,620 (178)

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   +4 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, John Z. Chan, Duaa M. Al-Majmaie, Ming Rong Liu, Alex D. Cocco, Ken D. Stark, Douglas Strathdee, Robin E. Duncan   +7 more
doaj   +4 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, Mingjing Xu, Aaron D. Schimmer   +2 more
doaj   +4 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, Dobromir Slavov, Ernesto Salcedo, Xiao Zhu, Deborah Ferguson, Jean Jirikowic, Andrea Di Lenarda, Gianfranco Sinagra, Luisa Mestroni   +8 more
doaj   +5 more sources

Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy [PDF]

Frontiers in Molecular Medicine
Barth 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, Güntas Gülcan, Ranjithkumar Rajendran, Marcus Höring, Gerhard Liebisch, Akash Bachhuka, Michael Kohlhaas, Christoph Maack, Christoph Maack, Süleyman Ergün, Jan Dudek, Srikanth Karnati   +11 more
doaj   +3 more sources

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells. [PDF]

FASEB J
Deficiency 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, Berdeklis AN, Liu MR, Rahman FA, Tomczewski MV, Graham MQ, Musa M, Cocco AD, Stark KD, Quadrilatero J, Duncan RE.   +10 more
europepmc   +4 more sources

The enigmatic role of tafazzin in cardiolipin metabolism

Biochimica et Biophysica Acta (BBA) - Biomembranes, 2009
The mitochondrial phospholipid cardiolipin plays an important role in cellular metabolism as exemplified by its involvement in mitochondrial energy production and apoptosis.
Poll-The, Bwee Tien, Kulik, Willem, Vaz, Frédéric M., Houtkooper, Riekelt H., Morrone, Amelia, Turkenburg, Marjolein, Malvagia, Sabrina, Wanders, Ronald J., Karall, Daniela, Pérez-Cerdá, Celia   +9 more
core   +4 more sources

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome [PDF]

International Journal of Molecular Sciences
Barth 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 ...
Rahul Raghav, Junya Awata, Gregory L Martin   +2 more
exaly   +4 more sources

The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility

Journal of Developmental Biology
Barth 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, Elizabeth A. Sierra Potchanant, Catalina Matias, Donna M. Edwards, Jeffrey J. Brault, Simon J. Conway   +5 more
doaj   +6 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.
Kevin Whited, Steven M. Claypool, Srijumnong, Santi, Koehler, Carla M, Whited, Kevin, Han, Xianlin, Carla M. Koehler, Claypool, Steven M, Santi Srijumnong, Xianlin Han   +9 more
core   +6 more sources