Results 1 to 10 of about 2,246 (103)

Tafazzin regulates neutrophil maturation and inflammatory response [PDF]

EMBO Reports
Barth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy and skeletal myopathy.
Angela H Nobbs, Ashley M Toye, Borko Amulic   +2 more
exaly   +4 more sources

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome [PDF]

Frontiers in Cardiovascular Medicine
BackgroundBarth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in TAFAZZIN, which encodes a mitochondrial protein essential for ...
Emma S. Singer, Emma S. Singer, Janine Smith, Janine Smith, Janine Smith, Richard Lin, Richard Lin, Ansley M. Morrish, Ansley M. Morrish, Sean Lal, Claire Irving, Claire Irving, Charlene Casey, Ingrid King, Robert G. Weintraub, Robert G. Weintraub, Robert G. Weintraub, Richard D. Bagnall, Richard D. Bagnall   +18 more
doaj   +2 more sources

Defective vascular smooth muscle cell tafazzin impairs mitochondrial function and promotes atherosclerosis in preclinical models [PDF]

Nature Communications
Atherosclerotic lesions show significant mitochondrial dysfunction but the underlying mechanisms and consequences remain unknown. Cardiolipin is a phospholipid found exclusively in the mitochondrial inner membrane, the site of oxidative phosphorylation ...
Cindy Dong, Alison Finigan, Nichola Figg, Benjamin Jenkins, Albert Koulman, Suvagata R. Chowdhury, Anne-Marie Tricolici, Jordi Lambert, Sebnem Oc, Helle F. Jørgensen, Julien Prudent, Michael P. Murphy, Martin Bennett, Emma Yu   +13 more
doaj   +2 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

Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome

Cells, 2020
Tafazzin is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation.
Patrice X Petit, Nathan E Rainey
exaly   +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

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function.
Catalina Matias, Paige L. Snider, Elizabeth A. Sierra Potchanant, Joshua R. Huot, Rahul Raghav, Michael T. Chin, Simon J. Conway, Jeffrey J. Brault   +7 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

Diminished Exercise Capacity and Mitochondrial bc1 Complex Deficiency in Tafazzin-Knockdown Mice

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 ...
Arnold W Strauss, Zaza Khuchua, Strauss Arnold W   +2 more
exaly   +3 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