Results 101 to 110 of about 663 (143)

Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome

, 2011
Barth syndrome is an X-linked genetic disorder caused by mutations in the tafazzin (taz) gene and characterized by dilated cardiomyopathy, exercise intolerance, chronic fatigue, delayed growth, and neutropenia.
Moore, Vicky, Wansapura, Janaka, Kulik, Willem, James, Jeanne, Vaz, Frederic, Acehan, Devrim, Toth, Matthew J., Houtkooper, Riekelt H., Khuchua, Zaza, Tokunaga, Chonan, Strauss, Arnold   +10 more
core   +2 more sources

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

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   +1 more source

Tafazzin knockdown and Dox-sensitivity in H9c2 cardiomyocytes.

, 2016
(A) knockdown of tafazzin was confirmed in H9c2 cells after transfection with 20 nM tafazzin siRNA for 48 h by western blot analysis. (B) Representative western blot showing the level of cleaved caspase-3.
Baikuntha Aryal (441940), V. Ashutosh Rao (441950)   +1 more
core   +1 more source

Role of Hippo Pathway Effector Tafazzin Protein in Maintaining Stemness of Umbilical Cord-Derived Mesenchymal Stem Cells (UC-MSC) [Elektronisk resurs]

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

Coenzyme A is bound to tafazzin – a paradigm change for transacylation

Abstract Cardiolipin (CL) is the signature phospholipid of mitochondria. In an obligatory remodeling process, the mitochondrial transacylase tafazzin exchanges its acyl chains to create the highly unsaturated, mature form of CL. Tafazzin dysfunction causes Barth syndrome, a severe multisystem disorder.
José Guadalupe Rosas Jiménez, Jonathan Schiller, Janet Vonck, Gerhard Hummer, Volker Zickermann   +4 more
openaire   +1 more source

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   +1 more source

Barth syndrome: mechanisms and management

The Application of Clinical Genetics, 2019
Josef FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, AustriaObjectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the ...
Finsterer J
doaj  

Mitochondrial cardiolipin metabolism controlled by tafazzin enables ferroptosis

Abstract Mitochondria are important producers of reactive oxygen species, which are involved in triggering ferroptosis, a lipid peroxidation driven form of cell death. Paradoxically, in the rare inherited metabolic disease Barth Syndrome, we discovered a protection from erastin-induced ferroptosis, despite intrinsically elevated ...
Yvonne Wohlfarter, Judith Hagenbuchner, Utku Horzum, Gregor Oemer, Andreas Winter, Markus Seifert, Julian Schwärzler, Janik Kokot, Pablo Hernansanz Agustín, Viktorija Juric, Luiz Felipe Garcia Suoza, Heribert Talasz, José Antonio Enríquez Domínguez, Hesso Farhan, Timon E. Adolph, Günter Weiss, Johannes Zschocke, Markus A. Keller   +17 more
openaire   +1 more source

Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome

Disease Models & Mechanisms, 2022
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells   +5 more
doaj   +1 more source

Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression

Frontiers in Genetics, 2022
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +1 more source