Results 21 to 30 of about 2,732 (148)

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 Sciences
ObjectiveMutations 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, Tanin Shafaati, Tanin Shafaati, Amanda A. Greenwell, Amanda A. Greenwell, Amanda A. Greenwell, Christina T. Saed, Christina T. Saed, Christina T. Saed, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Seyed Amirhossein Tabatabaei Dakhili, Jordan S. F. Chan, Jordan S. F. Chan, Jordan S. F. Chan, Linyue Dong, Linyue Dong, Magnus J. Stenlund, Magnus J. Stenlund, Magnus J. Stenlund, Sally R. Ferrari, Sally R. Ferrari, Sally R. Ferrari, Ruth Han, Ruth Han, Jennifer Kruger, Farah Eaton, Farah Eaton, Farah Eaton, Keshav Gopal, Keshav Gopal, Keshav Gopal, Sandra T. Davidge, Sandra T. Davidge, Sandra T. Davidge, Gavin Y. Oudit, Gavin Y. Oudit, Gavin Y. Oudit, John R. Ussher, John R. Ussher, John R. Ussher   +40 more
doaj   +2 more sources

Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults

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   +2 more sources

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Balkan Journal of Medical Genetics, 2016
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V   +5 more
doaj   +2 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   +2 more sources

The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome

Frontiers in Physiology, 2021
Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). Taz is an important enzyme responsible for synthesizing biologically relevant cardiolipin (for heart and skeletal muscle, cardiolipin
Mario Elkes, Martin Andonovski, Daislyn Vidal, Madison Farago, Ryan Modafferi, Steven M. Claypool, Paul J. LeBlanc   +6 more
doaj   +1 more source

Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites

Frontiers in Pediatrics, 2022
Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features.
Xuliang Zhao, Xu Li, Weiwei Sun, Jian-an Jia, Min Yu, Ruixia Tian   +5 more
doaj   +1 more source

Studying Lipid-Related Pathophysiology Using the Yeast Model

Frontiers in Physiology, 2021
Saccharomyces cerevisiae, commonly known as baker’s yeast, is one of the most comprehensively studied model organisms in science. Yeast has been used to study a wide variety of human diseases, and the yeast model system has proved to be an especially ...
Tyler Ralph-Epps, Chisom J. Onu, Linh Vo, Michael W. Schmidtke, Anh Le, Miriam L. Greenberg   +5 more
doaj   +1 more source

Exercise tolerance with Tafazzin knockdown.

, 2023
A, Expression of Tafazzin in vastus, heart, or liver of WT and TG mice after undergoing exercise studies shown in this figure. B, Treadmill exercise time to exhaustion for WT and TG mice.
Christina A. Pacak (16914168), Curtis C. Hughey (3686770), Michael R. Martino (16914165), Grace L. Ditzenberger (16914162), William Todd Cade (5278310), George G. Schweitzer (16914159), Barry J. Byrne (7944677), Brian N. Finck (8798969)   +7 more
core   +1 more source

Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition

Membranes, 2022
The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu, Ying-Chih Chen, Ruo-Yun Lai, Jui-Fen Chan, Ya-Hui Lee, Maria Balazova, Yuan-Hao Howard Hsu   +6 more
doaj   +1 more source

AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome

Molecular Therapy: Methods & Clinical Development, 2019
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak   +6 more
doaj   +1 more source