Results 11 to 20 of about 2,720 (174)

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.
Borko Amulic, Angela Nobbs, Ash Toye
exaly   +8 more sources

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

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   +12 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 ...
Zaza Khuchua, Khuchua Zaza
exaly   +7 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

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   +3 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 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.
Nathan Earl Rainey, Petit Patrice X
exaly   +4 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   +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 ...
Dorota Piekutowska-Abramczuk
exaly   +4 more sources