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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| Main Authors: | Ryuichi Hishida, Kohei Ishiguro, Tomoyuki Yamanaka, Shinya Toyokuni, Hideaki Matsui |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426924001186 |
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