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Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice

Autosomal-dominant Schnyder corneal dystrophy (SCD) is characterized by corneal opacification owing to overaccumulation of cholesterol. SCD is caused by mutations in UBIAD1, which utilizes geranylgeranyl pyrophosphate (GGpp) to synthesize vitamin K(2). Using cultured cells, we previously showed that...

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Publicado en:eLife
Autores principales: Jo, Youngah, Hamilton, Jason S, Hwang, Seonghwan, Garland, Kristina, Smith, Gennipher A, Su, Shan, Fuentes, Iris, Neelam, Sudha, Thompson, Bonne M, McDonald, Jeffrey G, DeBose-Boyd, Russell A
Formato: Artigo
Lenguaje:Inglês
Publicado: eLife Sciences Publications, Ltd 2019
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6402834/
https://ncbi.nlm.nih.gov/pubmed/30785396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.44396
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