Results 91 to 100 of about 2,315 (156)

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

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

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

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

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

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

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models. [PDF]

EMBO Mol Med
Passadouro AS, Balfoort BM, Langeveld M, van Karnebeek CDM, van der Velden J, Houtkooper RH, Mosegaard S.   +6 more
europepmc   +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

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders. [PDF]

J Innate Immun
Wolf A, Montanelli G, Mathis D, Felser A, Laemmle A, Nuoffer JM, Gautschi M, Bourquin C, Stojkov D.   +8 more
europepmc   +1 more source