Results 21 to 30 of about 2,358 (161)

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

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation [PDF]

Frontiers in Cardiovascular Medicine
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria.
Mingxuan Che, Mingxuan Che, Fuhai Li, Yaning Jia, Yaning Jia, Qingzheng Liu, Jian Hu, Jidong Zhang, Shiguo Liu, Shiguo Liu   +9 more
doaj   +2 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   +4 more sources

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

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, Yan eHuang, Arnold W Strauss, Zaza eKhuchua   +3 more
doaj   +3 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   +4 more sources

Tafazzin senses curvature [PDF]

Nature Chemical Biology, 2012
The phospholipid-lysophospholipid transacylase tafazzin is responsible for enrichment of the cardiolipin fraction of mitochondria with tetralinoleoyl-cardiolipin. The specificity for linoleoyl hydrocarbon chains is now explained by the specific action of tafazzin on negatively curved lipid monolayers.
Michael, Schlame, Devrim, Acehan, Bob, Berno, Yang, Xu, Salvatore, Valvo, Mindong, Ren, David L, Stokes, Richard M, Epand   +7 more
openaire   +5 more sources

The Enzymatic Function of Tafazzin [PDF]

Journal of Biological Chemistry, 2006
Tafazzin is a putative enzyme that is involved in cardiolipin metabolism, it may carry mutations responsible for Barth syndrome. To identify the biochemical reaction catalyzed by tafazzin, we expressed the full-length isoform of Drosophila melanogaster tafazzin in a baculovirus-Sf9 insect cell system.
Yang, Xu, Ashim, Malhotra, Mindong, Ren, Michael, Schlame   +3 more
openaire   +2 more sources

The Basis for Acyl Specificity in the Tafazzin Reaction [PDF]

Journal of Biological Chemistry, 2017
Tafazzin is a mitochondrial enzyme that transfers fatty acids from phospholipids to lysophospholipids. Mutations in tafazzin cause abnormal molecular species of cardiolipin and the clinical phenotype of Barth syndrome. However, the mechanism by which tafazzin creates acyl specificity has been controversial.
Michael, Schlame, Yang, Xu, Mindong, Ren
openaire   +2 more sources