Homozygous slc25a20 zebrafish mutant reveals insights into carnitine-acylcarnitine translocase deficiency pathogenesis

The SLC25A20 gene encodes carnitine-acylcarnitine translocase (CACT), facilitating the transport of long-chain acylcarnitine required for energy production via β-oxidation into the mitochondria. Loss-of-function mutations in this gene lead to CACT deficiency, a rare autosomal recessive disorder of f...

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Hlavní autoři: Ryuichi Hishida, Kohei Ishiguro, Tomoyuki Yamanaka, Shinya Toyokuni, Hideaki Matsui
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2024-12-01
Edice:Molecular Genetics and Metabolism Reports
Témata:
Zebrafish
slc25a20
Carnitine-acylcarnitine translocase deficiency
Hypertrophied
Lipid storage myopathy
Fatty liver
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2214426924001186
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