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Items: 1 to 20 of 189

1.

Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz syndrome.

Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA.

Biol Psychiatry. 2014 Feb 1;75(3):215-22. doi: 10.1016/j.biopsych.2013.06.013.

2.

An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.

Xu L, Korade Z, Rosado DA Jr, Liu W, Lamberson CR, Porter NA.

J Lipid Res. 2011 Jun;52(6):1222-33. doi: 10.1194/jlr.M014498.

3.

DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model.

Xu L, Mirnics K, Bowman AB, Liu W, Da J, Porter NA, Korade Z.

Neurobiol Dis. 2012 Mar;45(3):923-9. doi: 10.1016/j.nbd.2011.12.011.

4.

Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome.

Korade Z, Xu L, Mirnics K, Porter NA.

J Inherit Metab Dis. 2013 Jan;36(1):113-22. doi: 10.1007/s10545-012-9504-z.

5.

Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome.

Xu L, Liu W, Sheflin LG, Fliesler SJ, Porter NA.

J Lipid Res. 2011 Oct;52(10):1810-20. doi: 10.1194/jlr.M018366.

6.

7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.

Xu L, Sheflin LG, Porter NA, Fliesler SJ.

Biochim Biophys Acta. 2012 Jun;1821(6):877-83. doi: 10.1016/j.bbalip.2012.03.001.

7.

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

Correa-Cerro LS, Wassif CA, Kratz L, Miller GF, Munasinghe JP, Grinberg A, Fliesler SJ, Porter FD.

Hum Mol Genet. 2006 Mar 15;15(6):839-51.

8.
9.

Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7(Δ3-5/T93M) mouse: a model of Smith-Lemli-Opitz syndrome.

Meljon A, Watson GL, Wang Y, Shackleton CH, Griffiths WJ.

Biochem Pharmacol. 2013 Jul 1;86(1):43-55. doi: 10.1016/j.bcp.2013.03.003.

10.

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome.

Korade Z, Xu L, Shelton R, Porter NA.

J Lipid Res. 2010 Nov;51(11):3259-69. doi: 10.1194/jlr.M009365.

11.

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Ginat S, Battaile KP, Battaile BC, Maslen C, Gibson KM, Steiner RD.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):175-83.

PMID:
15464432
12.

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.

Griffiths WJ, Abdel-Khalik J, Crick PJ, Ogundare M, Shackleton CH, Tuschl K, Kwok MK, Bigger BW, Morris AA, Honda A, Xu L, Porter NA, Björkhem I, Clayton PT, Wang Y.

J Steroid Biochem Mol Biol. 2016 Mar 11. pii: S0960-0760(16)30064-4. doi: 10.1016/j.jsbmb.2016.03.018. [Epub ahead of print] Review.

13.

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD.

Am J Hum Genet. 1998 Jul;63(1):55-62.

14.

Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells.

Xu L, Korade Z, Rosado DA Jr, Mirnics K, Porter NA.

J Lipid Res. 2013 Apr;54(4):1135-43. doi: 10.1194/jlr.M035733.

15.

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H, Patel SB.

Clin Genet. 2005 Nov;68(5):383-91. Review. Erratum in: Clin Genet. 2005 Dec;68(6):570.

17.

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA, Krakowiak PA, Wright BS, Gewandter JS, Sterner AL, Javitt N, Yergey AL, Porter FD.

Mol Genet Metab. 2005 Jun;85(2):96-107.

PMID:
15896653
18.

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

Correa-Cerro LS, Porter FD.

Mol Genet Metab. 2005 Feb;84(2):112-26. Review.

PMID:
15670717
19.

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA, Vied D, Tsokos M, Connor WE, Steiner RD, Porter FD.

Mol Genet Metab. 2002 Apr;75(4):325-34.

PMID:
12051964
20.

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.

Jiang XS, Backlund PS, Wassif CA, Yergey AL, Porter FD.

Mol Cell Proteomics. 2010 Jul;9(7):1461-75. doi: 10.1074/mcp.M900548-MCP200.

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