Results 101 to 110 of about 2,741 (176)
Journal of Inborn Errors of Metabolism and Screening, 2015 Mutations in the tafazzin ( TAZ ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial ...
Minal Borkar PhD +6 more
doaj +1 more source
, 2022 Tafazzin—an acyltransferase—is involved in cardiolipin (CL) remodeling. CL is associated with mitochondrial function, structure and more recently with cell proliferation. Various tafazzin isoforms exist in humans.
Michael Linnebacher (180341) +11 more
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Tafazzin (TAZ) promotes the tumorigenicity of cervical cancer cells and inhibits apoptosis
PLOS ONE, 2017 Tafazzin (TAZ) is often aberrantly expressed in some cancers, including rectal cancer and thyroid neoplasms. However, the function of TAZ in cervical cancer cells remains unknown. This study aims to explore the expression and function of TAZ in cervical cancer cells.
Mei Chen, Yuan Zhang, Peng-Sheng Zheng
openaire +4 more sources
tafazzin and pla2g6 gene expression in zebrafish organs.
, 2018 The gene expression of (A) tafazzin and (B) pla2g6 are examined by RT-qPCR. The heat map representing gapdh is used as the reference gene.
Jamie Lin (4903615) +6 more
core +1 more source
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 +2 more
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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 +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 +4 more
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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
, 2014 Cardiolipin (CL) that is synthesized de novo is deacylated to monolysocardiolipin (MLCL), which is reacylated by tafazzin. Remodeled CL contains mostly unsaturated fatty acids.
Hüttemann, Maik +9 more
core +1 more source
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 +6 more
core +1 more source