Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.

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 K2. More than 20 UBI...

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Bibliographic Details
Main Authors: Shi-You Jiang, Jing-Jie Tang, Xu Xiao, Wei Qi, Suqian Wu, Chao Jiang, Jiaxu Hong, Jianjiang Xu, Bao-Liang Song, Jie Luo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-07-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008289

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https://doi.org/10.1371/journal.pgen.1008289

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