Results 151 to 160 of about 2,720 (174)

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome. [PDF]

open access: yesHum Mol Genet
Sniezek Carney O   +8 more
europepmc   +1 more source

Plasmalogens as biomarkers and therapeutic targets. [PDF]

open access: yesJ Lipid Res
Curran CS, Remaley AT, Torabi-Parizi P.
europepmc   +1 more source

Cardiolipin preserves T<sub>reg</sub> metabolic fitness and immune homeostasis in the gut. [PDF]

open access: yesNat Metab
Regina A   +31 more
europepmc   +1 more source

Mitochondrial cristae remodeling: Mechanisms, functions, and pathology. [PDF]

open access: yesCell Insight
Yu J   +7 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

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