Results 21 to 30 of about 2,752 (180)

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

The enigmatic role of tafazzin in cardiolipin metabolism [PDF]

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, Robert Blanton, Douglas Strathdee   +2 more
exaly   +4 more sources

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

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   +5 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

Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy [PDF]

Scientific Reports
Barth syndrome is an X-linked syndrome characterized by cardiomyopathy, skeletal myopathy, and neutropenia. This life-threatening disorder results from loss-of-function mutations in TAFAZZIN, which encodes a phospholipid-lysophospholipid transacylase ...
Usua Oyarbide, Rebecca A. Anderson, Igor Radzikh, Jillian V. Kodger, Akshay S. Patil, Morgan Staton, Anny Mulya, Genevieve M. Crane, Silvio Litovsky, Yana Sandlers, Seth J. Corey   +10 more
doaj   +2 more sources

Substantial Decrease in Plasmalogen in the Heart Associated with Tafazzin Deficiency [PDF]

Biochemistry, 2018
Tafazzin is the mitochondrial enzyme that catalyzes transacylation between a phospholipid and a lysophospholipid in remodeling. Mutations in tafazzin cause Barth syndrome, a potentially life-threatening disease with the major symptom being cardiomyopathy.
Yang Xu (178421), Tomohiro Kimura (130865), Atsuko K. Kimura (5043026), Richard M. Epand (311101), Mindong Ren (5043023), Bob Berno (2412337), Michael Schlame (5043020)   +6 more
core   +3 more sources

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, Rosa Di Liddo, Francesco Marotta, Ramachandran Murugesan, Antara Banerjee, Sushmitha Sriramulu, Ganesan Jothimani, Vimala Devi Subramaniam, Srinivasan Narasimhan, Swarna Priya K, Xiao-Feng Sun, Surajit Pathak   +11 more
doaj   +3 more sources

A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report [PDF]

Frontiers in Pediatrics
IntroductionBarth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the TAFAZZIN gene, located on the X chromosome. This gene codes for the protein tafazzin, which is involved in the metabolism of the mitochondrial phospholipid ...
Michał Krawiec, Joanna Śliwka, Szymon Pawlak, Michał Kapałka, Paulina Hamerling, Weronika Grzywacz, Wiktoria Hawel, Gabriela Skórska, Dorota Piekutowska-Abramczuk, Tomasz Hrapkowicz   +9 more
doaj   +2 more sources

Diaphragmatic Mitochondrial Myopathy in a Patient-Derived Mouse Model of Barth Syndrome [PDF]

Journal of Developmental Biology
Barth syndrome (BTHS) is a rare, X-linked genetic disorder caused by mutations in the enzyme TAFAZZIN (TAZ), resulting in insufficient cardiolipin (CL) remodeling and mitochondrial dysfunction.
Kristen Tentler, Paige L. Snider, Catalina Matias, Jeffrey J. Brault, Simon J. Conway   +4 more
doaj   +2 more sources