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Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase
Schnyder corneal dystrophy (SCD) is a rare genetic eye disease characterized by corneal opacification resulted from deposition of excess free cholesterol. UbiA prenyltransferase domain-containing protein-1 (UBIAD1) is an enzyme catalyzing biosynthesis of coenzyme Q10 and vitamin K(2). More than 20 U...
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| Publié dans: | PLoS Genet |
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| Auteurs principaux: | , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Public Library of Science
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6668851/ https://ncbi.nlm.nih.gov/pubmed/31323021 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008289 |
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