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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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| Glavni autori: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2024-12-01
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| Serija: | Molecular Genetics and Metabolism Reports |
| Teme: | |
| Online pristup: | http://www.sciencedirect.com/science/article/pii/S2214426924001186 |
| Oznake: |
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