Results 111 to 120 of about 2,620 (178)

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

Loss of mitochondrial quality control protein Yme1 is deleterious to the viability of yeast lacking tafazzin.

, 2014
Role of mitophagy and mitochondrial quality-control in Barth syndrome.The Saccharomyces cerevisiae TAZ1 gene is an orthologue of human TAZ; both encode the protein tafazzin.
Gaspard, Gerard
core  

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene [PDF]

IntroductionBarth syndrome is a mitochondrial disease caused by loss-of-function mutations in the TAFAZZIN gene located on chromosome Xq28 encoding a transacylase essential for cardiolipin remodeling.
Chang, Richard, Fishbein, Gregory A, Husain, Majid, Halnon, Nancy J, Zadeh, Neda, Prasanpanich, Marisa, Knight, Jason   +6 more
core   +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

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  

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  

Investigation of a potential therapeutic role for N-oleoylethanolamide and N-linoleoylethanolamide using lymphoblasts deficient in Tafazzin [PDF]

, 2020
Barth syndrome (BTHS) is a rare X-linked genetic disorder caused by mutations in the TAZ gene that encodes for a cardiolipin (CL) remodelling enzyme, Tafazzin.
Chan, John Zewen
core  

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

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