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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Enregistré dans:
Détails bibliographiques
Publié dans:PLoS Genet
Auteurs principaux: Jiang, Shi-You, Tang, Jing-Jie, Xiao, Xu, Qi, Wei, Wu, Suqian, Jiang, Chao, Hong, Jiaxu, Xu, Jianjiang, Song, Bao-Liang, Luo, Jie
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2019
Sujets:
Research Article
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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