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Author Correction: Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells. [PDF]

open access: yesSci Rep
Liang Z   +12 more
europepmc   +1 more source

Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome. [PDF]

open access: yesDiabetologia
Carlein C   +21 more
europepmc   +1 more source
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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   +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   +4 more
openaire   +2 more sources

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

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. A phospholipid that is exclusively found within mitochondria that serves numerous roles is cardiolipin (CL).
Brandon J. Richards   +2 more
openaire   +1 more source

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