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Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation
The autosomal dominant disorder Schnyder corneal dystrophy (SCD) is caused by mutations in UbiA prenyltransferase domain-containing protein-1 (UBIAD1), which uses geranylgeranyl pyrophosphate (GGpp) to synthesize the vitamin K(2) subtype menaquinone-4 (MK-4). SCD is characterized by opacification of...
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| Publicado no: | J Lipid Res |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society for Biochemistry and Molecular Biology
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7193952/ https://ncbi.nlm.nih.gov/pubmed/32188638 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.RA119000551 |
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