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Items: 1 to 20 of 106

1.

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS.

PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760.

2.

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.

Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M.

Hum Mutat. 2013 Feb;34(2):317-29. doi: 10.1002/humu.22230. Epub 2012 Nov 27. Erratum in: Hum Mutat. 2013 Jul;34(7):1046.

PMID:
23169578
3.

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M.

PLoS One. 2007 Aug 1;2(8):e685.

4.

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML.

Am J Med Genet A. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201.

PMID:
18176953
5.

The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductase.

Schumacher MM, Elsabrouty R, Seemann J, Jo Y, DeBose-Boyd RA.

Elife. 2015 Mar 5;4. doi: 10.7554/eLife.05560.

6.

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5007-12.

PMID:
17962451
7.

A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.

Du C, Li Y, Dai L, Gong L, Han C.

Mol Vis. 2011;17:2685-92. Epub 2011 Oct 15.

8.

Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and Golgi.

Schumacher MM, Jun DJ, Jo Y, Seemann J, DeBose-Boyd RA.

J Lipid Res. 2016 Jul;57(7):1286-99. doi: 10.1194/jlr.M068759. Epub 2016 Apr 27. Erratum in: J Lipid Res. 2016 Aug;57(8):1599.

9.
10.

The Oskar Fehr Lecture.

Weiss JS.

Klin Monbl Augenheilkd. 2016 Jun;233(6):708-12. doi: 10.1055/s-0042-100735. Epub 2016 Jun 17.

PMID:
27315290
11.

Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.

Weiss JS, Wiaux C, Yellore V, Raber I, Eagle R, Mequio M, Aldave A.

Cornea. 2010 Jul;29(7):777-80. doi: 10.1097/ICO.0b013e3181c84bcf.

PMID:
20489584
12.

[Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy].

Tao SY, Wang LY, Yu XF, Niu C, Pang CJ.

Zhonghua Yi Xue Za Zhi. 2012 Dec 4;92(45):3215-7. Chinese.

PMID:
23328470
13.

Phenotype-genotype correlation in patients with Schnyder corneal dystrophy.

Nowinska AK, Wylegala E, Teper S, Lyssek-Boron A, Aragona P, Roszkowska AM, Micali A, Pisani A, Puzzolo D.

Cornea. 2014 May;33(5):497-503. doi: 10.1097/ICO.0000000000000090.

PMID:
24608252
14.

Differential diagnosis of Schnyder corneal dystrophy.

Weiss JS, Khemichian AJ.

Dev Ophthalmol. 2011;48:67-96. doi: 10.1159/000324078. Epub 2011 Apr 26. Review.

PMID:
21540632
15.

In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.

Kobayashi A, Fujiki K, Murakami A, Sugiyama K.

Ophthalmology. 2009 Jun;116(6):1029-37.e1. doi: 10.1016/j.ophtha.2008.12.042. Epub 2009 Apr 25.

PMID:
19394700
16.

Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.

Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ.

Mol Vis. 2007 Sep 24;13:1777-82.

PMID:
17960116
17.

A novel Golgi retention signal RPWS for tumor suppressor UBIAD1.

Wang X, Wang D, Jing P, Wu Y, Xia Y, Chen M, Hong L.

PLoS One. 2013 Aug 19;8(8):e72015. doi: 10.1371/journal.pone.0072015. eCollection 2013.

18.

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Wilkins S, Cheetham ME, Wilkie SE, Hardcastle AJ, Halford S, Bayoumi AY, Ficker LA, Tuft S, Bhattacharya SS, Ebenezer ND.

Invest Ophthalmol Vis Sci. 2002 Feb;43(2):377-82.

PMID:
11818380
19.

Mitochondrial damage and cholesterol storage in human hepatocellular carcinoma cells with silencing of UBIAD1 gene expression.

Morales CR, Grigoryeva LS, Pan X, Bruno L, Hickson G, Ngo MH, McMaster CR, Samuels ME, Pshezhetsky AV.

Mol Genet Metab Rep. 2014 Sep 19;1:407-411. eCollection 2014.

20.

Structure of a membrane-embedded prenyltransferase homologous to UBIAD1.

Huang H, Levin EJ, Liu S, Bai Y, Lockless SW, Zhou M.

PLoS Biol. 2014 Jul 22;12(7):e1001911. doi: 10.1371/journal.pbio.1001911. eCollection 2014 Jul.

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