Results 181 to 190 of about 3,950 (204)

A Reduction in Tafazzin Decreases Mitochondrial Function in C2C12 Myotubes

The FASEB Journal, 2022
Mitochondria, which are often regarded as the “powerhouse of the cell”, are labile organelles that regulate cellular metabolism, determine cell fate, and act as important signaling hubs.
Brandon J. Richards, Ashley N. Oliviera, D. Hood   +2 more
semanticscholar   +2 more sources

Mögliche Ursache einer fetalen Herzinsuffizienz: TAFAZZIN-Genvariante

Ultraschall in der Medizin - European Journal of Ultrasound
M. Rehn, E. Kunstmann, P. Paul, D. Schröder, A. Wöckel, U. Pecks   +5 more
semanticscholar   +2 more sources

Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome.

Human Molecular Genetics, 2023
Barth syndrome is an X-linked disorder caused by loss-of-function mutations in Tafazzin (TAZ), an acyltransferase that catalyzes remodeling of cardiolipin, a signature phospholipid of the inner mitochondrial membrane.
Suya Wang, Erika Yazawa, Erin M. Keating, Neil Mazumdar, Alexander Hauschild, Qing Ma, Haiyan Wu, Yang Xu, Xu Shi, D. Strathdee, R. Gerszten, M. Schlame, W. Pu   +12 more
semanticscholar   +1 more source

Tafazzin splice variants and mutations in Barth syndrome

Molecular Genetics and Metabolism, 2014
Barth syndrome is caused by mutations in the TAZ (tafazzin) gene on human chromosome Xq28. The human tafazzin gene produces four major mRNA splice variants; two of which have been shown to be functional (TAZ lacking exon 5 and full-length) in complementation studies with yeast and Drosophila.
Susan M, Kirwin, Athena, Manolakos, Sarah Swain, Barnett, Iris L, Gonzalez   +3 more
openaire   +2 more sources

Cardiac mitochondrial structure and function in tafazzin-knockdown mice

Mitochondrion, 2018
Mutations in the tafazzin gene are the basis of Barth syndrome. The tafazzin protein is responsible for the synthesis of cardiolipin. Doxycycline-induced tafazzin-knockdown mice have been used as a model for Barth syndrome. In the current study, we examined subsarcolemmal and interfibrillar mitochondria from hearts of tafazzin-knockdown mice, focusing ...
Junhwan Kim, Kwangwon Lee, Hisashi Fujioka, Bernard Tandler, Charles L. Hoppel   +4 more
openaire   +2 more sources

Abstract P1016: Single Cell Transcriptomic Analysis Of Tafazzin Knockout Mice For Pathway And Therapeutic Discovery In Barth Syndrome

Circulation Research, 2023
Barth Syndrome, a rare X-linked disorder affecting 1:300,000 live births, results from defects in Tafazzin, an acyltransferase that remodels cardiolipin and is essential for mitochondrial respiration.
Gayani Perera, Liam Power, Amy Larson, C. Codden, Junya Awata, Rebecca Batorsky, Douglas Strathdee, Michael T Chin   +7 more
semanticscholar   +1 more source

Cardiolipin remodeling and the function of tafazzin

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2013
Cardiolipin, the specific phospholipid of mitochondria, is involved in the biogenesis, the dynamics, and the supramolecular organization of mitochondrial membranes. Cardiolipin acquires a characteristic composition of fatty acids by post-synthetic remodeling, a process that is crucial for cardiolipin homeostasis and function.
openaire   +2 more sources

Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes

American Journal of Physiology-Heart and Circulatory Physiology, 2010
Mutation of the mitochondrial protein tafazzin causes dilated cardiomyopathy in Barth syndrome. We employed an adenovirus as a vector to transfer tafazzin small hairpin RNA (shRNA) into neonatal ventricular myocytes (NVMs) to investigate the effects of tafazzin knockdown. The tafazzin shRNA adenovirus consistently knocked down tafazzin mRNA and lowered
openaire   +2 more sources

Abstract 13103: Defective Vascular Smooth Muscle Cell Tafazzin Impairs Mitochondrial Function and Promotes Atherosclerosis

Circulation, 2022
Introduction: Tafazzin acylates immature monolysocardiolipin to form mature cardiolipin. Cardiolipin is the signature phospholipid of the mitochondrial inner membrane required for respiratory efficiency and regulation of apoptosis.
Cindy Dong, Alison Finigan, N. Figg, M. Bennett, E. Yu   +4 more
semanticscholar   +1 more source