Results 101 to 110 of about 2,620 (178)

Therapies for Mitochondrial Disease: Past, Present, and Future

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball, Nicole J. van Bergen, Alison G. Compton, David R. Thorburn, Shamima Rahman, John Christodoulou   +5 more
wiley   +1 more source

DataSheet2_Re-Expression of Tafazzin Isoforms in TAZ-Deficient C6 Glioma Cells Restores Cardiolipin Composition but Not Proliferation Rate and Alterations in Gene Expression.pdf

, 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), Daniela Peter (13146513), Stefan Simm (277838), Michael Lalk (117041), Uwe Lendeckel (4405486), Gayatri Jagirdar (13146510), Mathias Krohn (443089), Christian Scharf (104359), Matthias Elsner (3507983), Karen Methling (510762), Katrin Borucki (229301), Carmen Wolke (13146516)   +11 more
core   +1 more source

Role of Tafazzin in Hematopoiesis and Leukemogenesis

, 2020
Tafazzin (TAZ) is a mitochondrial transacylase that remodels the mitochondrial cardiolipin into its mature form. Through a CRISPR screen, we identified TAZ as necessary for the growth and viability of acute myeloid leukemia (AML) cells.
Seneviratne, Ayesh Kumar
core   +2 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), Yuan-Hao Howard Hsu (665876), Maria Balazova (4903606), Ting-Yuan Wu (4903609), Yi-Wen Liu (143532), Wen-Hsin Wu (4903612), Yu-Jen Chao (665872)   +6 more
core   +1 more source

A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing.

, 2023
Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Robert Wessells, Kristin Richardson
core   +1 more source

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

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

Deletion of the cardiolipin-specific phospholipase Cld1 rescues growth and life span defects in the tafazzin mutant: implications for Barth syndrome

, 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, Ye, Cunqi, Chatzispyrou, Iliana A., Vaz, Frédéric M., Lee, Icksoo, Houtkooper, Riekelt H., Greenberg, Miriam L., Chen, Shuliang, Lou, Wenjia, Li, Yiran   +9 more
core   +1 more source