Results 91 to 100 of about 2,358 (161)

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. [PDF]

Prenat Diagn
ABSTRACT Objective To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome. Methods A 32‐year‐old G4P2011 patient was ...
Muir CR, Gilmore KL, Singh S, Vora NL.
europepmc   +3 more sources

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +1 more source

Cardiolipin biosynthesis and remodeling enzymes are altered during development of heart failure

Journal of Lipid Research, 2009
Cardiolipin (CL) is responsible for modulation of activities of various enzymes involved in oxidative phosphorylation. Although energy production decreases in heart failure (HF), regulation of cardiolipin during HF development is unknown.
Harjot K. Saini-Chohan, Michael G. Holmes, Adam J. Chicco, William A. Taylor, Russell L. Moore, Sylvia A. McCune, Diane L. Hickson-Bick, Grant M. Hatch, Genevieve C. Sparagna   +8 more
doaj   +1 more source

Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

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, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP   +6 more
doaj   +1 more source

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

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

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 ...
Wohlfarter Y, Hagenbuchner J, Horzum U, Oemer G, Winter A, Seifert M, Schwärzler J, Kokot J, Hernansanz Agustín P, Juric V, Garcia Suoza LF, Talasz H, Enríquez Domínguez JA, Farhan H, Adolph TE, Weiss G, Zschocke J, Keller MA.   +17 more
europepmc   +2 more sources