ArticlePloS one2007
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Article in PloS one, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 164 citations in OpenAlex.
- Allosteric regulation of UBIAD1 trafficking from ER to Golgi revealed by chemical genetic screening.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Case Report of Schnyder Corneal Dystrophy-A Rare Lipid Metabolic Disorder of the Cornea.Life (Basel, Switzerland) · 2025Article
- Association between Disorders of Lipid Metabolism and Oculopathy: An Overview.International journal of medical sciences · 2025Review
- Vitamin K and the Visual System-A Narrative Review.Nutrients · 2023Review
- Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.International journal of molecular sciences · 2023Article
- Post-Translational Regulation of HMG CoA Reductase.Cold Spring Harbor perspectives in biology · 2022Review
- Autophagy in the normal and diseased cornea.Experimental eye research · 2022Review
- Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.Molecular genetics & genomic medicine · 2022Article
- Regulated degradation of HMG CoA reductase requires conformational changes in sterol-sensing domain.Nature communications · 2022Article
- Naturally occurring UBIAD1 mutations differentially affect menaquinone biosynthesis and vitamin K-dependent carboxylation.The FEBS journal · 2022Article
- Article
- Functional study of SCCD pathogenic geneMolecular medicine reports · 2021Article
- L-3-n-butylphthalide promotes restoration after an experimental animal model of intracerebral hemorrhage.International journal of medical sciences · 2021Article
- Corneal dystrophies.Nature reviews. Disease primers · 2020Review
- Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.Journal of lipid research · 2020Article
- Enhanced ER-associated degradation of HMG CoA reductase causes embryonic lethality associated witheLife · 2020Article
- Multimodal Imaging Features of Schnyder Corneal Dystrophy.Journal of ophthalmology · 2020Article
- Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.PLoS genetics · 2019Article
- Atorvastatin Decreases Renal Menaquinone-4 Formation in C57BL/6 Male Mice.The Journal of nutrition · 2019Article
- Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.58 Mbp interval on chromosome 1p, exhaustive sequencing of positional candidate genes has thus far failed to reveal causal mutations. We have ascertained a large multigenerational family in Nova Scotia affected with SCCD in which we have confirmed linkage to the same general area of chromosome 1. Intensive fine mapping in our family revealed a 1.3 Mbp candidate interval overlapping that previously reported. Sequencing of genes in our interval led to the identification of five putative causal mutations in gene UBIAD1, in our family as well as in four other small families of various geographic origins. UBIAD1 encodes a potential prenyltransferase, and is reported to interact physically with apolipoprotein E. UBIAD1 may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.