Results 101 to 110 of about 2,315 (156)

Altered Membrane Association and Complex Formation of Tafazzin in the Absence of Cardiolipin

The FASEB Journal, 2006
Nascent cardiolipin (CL) is remodeled through a series of deacylation:reacylation cycles to obtain its “mature” fatty acyl chain constituents. Tafazzin (Taz1p), the mutant gene product associated with Barth syndrome patients, is hypothesized to act as the/a monolysoCL acyltransferase mediating CL remodeling.
Steven M. Claypool, Jenny Glavin, Carla M. Koehler   +2 more
openaire   +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  

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

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

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

The impact of Tafazzin deficiency on the functional and immunological characteristics of B lymphocytes

, 2022
Barth syndrome (BTHS) is a rare X-linked genetic disease classically characterized by cardiomyopathy, skeletal myopathy, and neutropenia. It is caused by mutations in the TAFAZZIN gene, which codes for the protein tafazzin (Taz), and this results in alterations in the level and molecular composition of the mitochondrial phospholipid cardiolipin with ...
openaire   +1 more source

Cardiolipin remodelling in mitochondrial therapeutics: translational evidence chains from elamipretide to emerging strategies. [PDF]

Front Physiol
Di K, Hu Y, Sun H, Meng T, Han T, Qie R.
europepmc   +1 more source

Cross-species evidence for cardiolipin remodeling in neonatal hypoxic-ischemic encephalopathy. [PDF]

J Cereb Blood Flow Metab
Emaus KJ, Fogo GM, Raghunayakula S, Gruley E, McCracken L, Dubs C, Speas RL, Torres Torres FJ, Wider JM, Sanderson TH.   +9 more
europepmc   +1 more source

Understanding the role of MLCL AT-1 and tafazzin in mitochondrial function

, 2015
Cardiolipin (CL) is a phospholipid found exclusively in mitochondria and is required for normal mitochondrial function. CL biosynthesis requires a crucial remodelling step that incorporates specific acyl chains onto its molecular structure. The enzyme primarily responsible for CL remodelling is Tafazzin (TAZ), a mitochondrial protein encoded by the TAZ
openaire   +1 more source

Lard Intake Reduced Tetralinoleoyl Cardiolipin and Attenuated the Cardioprotective Effects of Exercise in Mice With Pressure Overload-Induced Heart Failure. [PDF]

Circ Rep
Kitamura A, Ohminami H, Oshima A, Matsubara M, Sato T, Takikawa M, Ohnishi K, Masuda M, Yamanaka-Okumura H, Miura S, Taketani Y.   +10 more
europepmc   +1 more source