Associated Papers
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
Tsuneya M et al.
Japanese Journal of Ophthalmology, 2023
Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.
Jun DJ et al.
Journal of Lipid Research, 2020
Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
Jiang SY et al.
Plos Genetics, 2019
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
Dong F et al.
Scientific Reports, 2018
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.
Lin BR et al.
Journal of Ophthalmology, 2016
Functional characterization of the vitamin K2 biosynthetic enzyme UBIAD1.
Hirota Y et al.
Plos One, 2015
The TERE1 protein interacts with mitochondrial TBL2: regulation of trans-membrane potential, ROS/RNS and SXR target genes.
Fredericks WJ et al.
Journal of Cellular Biochemistry, 2013
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
Nickerson ML et al.
Human Mutation, 2013
[Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy].
Tao SY et al.
Zhonghua Yi Xue Za Zhi, 2012
The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression.
Fredericks WJ et al.
Dna and Cell Biology, 2011
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).
Al-Ghadeer H et al.
Middle East African Journal of Ophthalmology, 2011
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
Du C et al.
Molecular Vision, 2011
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
Nickerson ML et al.
Plos One, 2010
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
Jing Y et al.
Molecular Vision, 2009
Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.
Mehta JS et al.
The British Journal of Ophthalmology, 2009
In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.
Kobayashi A et al.
Ophthalmology, 2009
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
Weiss JS et al.
American Journal of Medical Genetics. Part A, 2008
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Orr A et al.
Plos One, 2007