Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.S171P
Back to variants list

UBIAD1

NM_013319.3:p.S171P

Associated Papers

Allosteric regulation of UBIAD1 trafficking from ER to Golgi revealed by chemical genetic screening.

Jun DJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

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

Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.

Lin BR et al.

Journal of Ophthalmology, 2016

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

Schnyder corneal dystrophy.

Weiss JS

Current Opinion in Ophthalmology, 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

Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.

Mehta JS et al.

Molecular Vision, 2008

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."