1 |
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
57
6
61
|
Nickerson ML...Dean M
|
23169578 |
2013 |
2 |
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
57
6
61
|
Weiss JS...Nickerson ML
|
18176953 |
2008 |
3 |
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
57
61
6
|
Weiss JS...Nickerson ML
|
17962451 |
2007 |
4 |
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
6
57
61
|
Orr A...Samuels M
|
17668063 |
2007 |
5 |
Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition.
57
6
61
|
McCarthy M...White V
|
8190477 |
1994 |
6 |
Fine mapping of the Schnyder's crystalline corneal dystrophy locus.
6
57
|
Theendakara V...Weiss JS
|
15034782 |
2004 |
7 |
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.
6
57
|
Battisti C...Federico A
|
9450854 |
1998 |
8 |
Schnyder's dystrophy. Progression and metabolism.
6
57
|
Lisch W...Utermann G
|
3486394 |
1986 |
9 |
Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy.
57
|
Dinh R...Laibson PR
|
10442892 |
1999 |
10 |
The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36.
57
|
Shearman AM...Weiss JS
|
8894705 |
1996 |
11 |
Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia.
57
|
Bron AJ...Carruthers ME
|
4537849 |
1972 |
12 |
Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure.
57
|
Garner A...Tripathi RC
|
4557903 |
1972 |
13 |
Degeneratio corneae cristallinea hereditaria. A clinical, genetical and histological study.
57
|
Delleman JW...Winkelman JE
|
4172628 |
1968 |
14 |
Hereditary crystalline dystrophy of the cornea.
57
|
Luxenberg M
|
5297570 |
1967 |
15 |
CRYSTALLINE CORNEAL DYSTROPHY. REPORT OF A CASE.
57
|
GILLESPIE FD...COVELLI B
|
14064898 |
1963 |
16 |
Hereditary crystalline degeneration of the cornea.
57
|
MALBRAN JL...VIDAL F
|
13133328 |
1953 |
17 |
Crystalline Dystrophy of the Cornea.
57
|
Fry WE...Pickett WE
|
16693508 |
1950 |
18 |
High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health.
61
|
Sarosiak A...Oldak M
|
32602245 |
2020 |
19 |
Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation.
61
|
Jun DJ...DeBose-Boyd RA
|
32188638 |
2020 |
20 |
Schnyder Corneal Dystrophy: A Rare Case Report.
61
|
Kurtul BE...Karaaslan A
|
32799247 |
2020 |
21 |
Multimodal Imaging Features of Schnyder Corneal Dystrophy.
61
|
Ghazal W...Borderie V
|
32280528 |
2020 |
22 |
Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
61
|
Jiang SY...Luo J
|
31323021 |
2019 |
23 |
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.
61
|
Dudakova L...Liskova P
|
30950897 |
2019 |
24 |
Crystalline Keratopathy in Post-LASIK Ectasia: A Case Report.
61
|
Modabber M...Choremis J
|
30575622 |
2019 |
25 |
Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice.
61
|
Jo Y...DeBose-Boyd RA
|
30785396 |
2019 |
26 |
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
61
|
Sarosiak A...Oldak M
|
30084067 |
2018 |
27 |
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
61
|
Evans CJ...Liskova P
|
30223810 |
2018 |
28 |
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
61
|
Dong F...Kao WW
|
29977031 |
2018 |
29 |
Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution.
61
|
Szabo DJ...Petrovski G
|
28872183 |
2018 |
30 |
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy.
61
|
Kitazawa K...Kinoshita S
|
29319599 |
2018 |
31 |
UbiA prenyltransferase domain-containing protein-1 modulates HMG-CoA reductase degradation to coordinate synthesis of sterol and nonsterol isoprenoids.
61
|
Schumacher MM...DeBose-Boyd RA
|
29167270 |
2018 |
32 |
Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.
61
|
Foja S...Gruenauer-Kloevekorn C
|
26961680 |
2016 |
33 |
Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi.
61
|
Schumacher MM...DeBose-Boyd RA
|
27121042 |
2016 |
34 |
Mutational spectrum of Korean patients with corneal dystrophy.
61
|
Chae H...Kim MS
|
26748743 |
2016 |
35 |
The Oskar Fehr Lecture.
61
|
Weiss JS
|
27315290 |
2016 |
36 |
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.
61
|
Lin BR...Aldave AJ
|
27382485 |
2016 |
37 |
The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase.
61
|
Schumacher MM...DeBose-Boyd RA
|
25742604 |
2015 |
38 |
Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2.
61
|
Kim EK...Choi SI
|
26310152 |
2015 |
39 |
Structure of a membrane-embedded prenyltransferase homologous to UBIAD1.
61
|
Huang H...Zhou M
|
25051182 |
2014 |
40 |
Phenotype-genotype correlation in patients with Schnyder corneal dystrophy.
61
|
Nowinska AK...Puzzolo D
|
24608252 |
2014 |
41 |
Crystalline subtype of pre-descemetic corneal dystrophy.
61
|
Dolz-Marco R...Diaz-Llopis M
|
25279130 |
2014 |
42 |
Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression.
61
|
Morales CR...Pshezhetsky AV
|
27896114 |
2014 |
43 |
A case of Schnyder corneal dystrophy with crystals.
61
|
Rittenbach TL
|
24121409 |
2013 |
44 |
[Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy].
61
|
Tao SY...Pang CJ
|
23328470 |
2012 |
45 |
Clinical and pathological features of a non-crystalline form of Schnyder corneal dystrophy.
61
|
Arnold-Worner N...Meyer P
|
22411127 |
2012 |
46 |
Chameleon-like appearance of immunotactoid keratopathy.
61
|
Lisch W...Rohrbach JM
|
21941171 |
2012 |
47 |
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).
61
|
Al-Ghadeer H...Khan AO
|
21572737 |
2011 |
48 |
Differential diagnosis of Schnyder corneal dystrophy.
61
|
Weiss JS...Khemichian AJ
|
21540632 |
2011 |
49 |
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
61
|
Du C...Han C
|
22065921 |
2011 |
50 |
Evidence of oxidative stress in Schnyder corneal dystrophy.
61
|
Gatzioufas Z...Seitz B
|
20530186 |
2010 |