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Items: 1 to 20 of 33

1.

The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts.

Korade Z, Kim HY, Tallman KA, Liu W, Koczok K, Balogh I, Xu L, Mirnics K, Porter NA.

J Med Chem. 2016 Feb 11;59(3):1102-15. doi: 10.1021/acs.jmedchem.5b01696. Epub 2016 Jan 29.

2.

Innovative Target Therapies Are Able to Block the Inflammation Associated with Dysfunction of the Cholesterol Biosynthesis Pathway.

Marcuzzi A, Piscianz E, Loganes C, Vecchi Brumatti L, Knowles A, Bilel S, Tommasini A, Bortul R, Zweyer M.

Int J Mol Sci. 2015 Dec 30;17(1). pii: E47. doi: 10.3390/ijms17010047. Review.

3.

Computational model for monitoring cholesterol metabolism.

Selvakumar R, Rashith Muhammad M, Poornima Devi G.

Syst Synth Biol. 2014 Dec;8(4):307-11. doi: 10.1007/s11693-014-9152-8. Epub 2014 Aug 1.

4.

From synthesis to function via iterative assembly of N-methyliminodiacetic acid boronate building blocks.

Li J, Grillo AS, Burke MD.

Acc Chem Res. 2015 Aug 18;48(8):2297-307. doi: 10.1021/acs.accounts.5b00128. Epub 2015 Jul 22.

5.

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Cunningham D, DeBarber AE, Bir N, Binkley L, Merkens LS, Steiner RD, Herman GE.

Hum Mol Genet. 2015 May 15;24(10):2808-25. doi: 10.1093/hmg/ddv042. Epub 2015 Feb 4.

6.

Smith-lemli-opitz syndrome: a case with annular pancreas.

Demirdöven M, Yazgan H, Korkmaz M, Gebeşçe A, Tonbul A.

Case Rep Pediatr. 2014;2014:623926. doi: 10.1155/2014/623926. Epub 2014 Aug 5.

7.
8.

Proteome-wide mapping of cholesterol-interacting proteins in mammalian cells.

Hulce JJ, Cognetta AB, Niphakis MJ, Tully SE, Cravatt BF.

Nat Methods. 2013 Mar;10(3):259-64. doi: 10.1038/nmeth.2368. Epub 2013 Feb 10.

9.

Pathogenesis-based therapies in ichthyoses.

Lai-Cheong JE, Elias PM, Paller AS.

Dermatol Ther. 2013 Jan-Feb;26(1):46-54. doi: 10.1111/j.1529-8019.2012.01528.x. Review.

10.

Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.

Elias PM, Williams ML, Feingold KR.

Clin Dermatol. 2012 May-Jun;30(3):311-22. doi: 10.1016/j.clindermatol.2011.08.017.

11.

Differential effect of cholesterol and its biosynthetic precursors on membrane dipole potential.

Haldar S, Kanaparthi RK, Samanta A, Chattopadhyay A.

Biophys J. 2012 Apr 4;102(7):1561-9. doi: 10.1016/j.bpj.2012.03.004. Epub 2012 Apr 3.

12.

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR.

PLoS Genet. 2011 Sep;7(9):e1002224. doi: 10.1371/journal.pgen.1002224. Epub 2011 Sep 1.

13.

A spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse.

Merath KM, Chang B, Dubielzig R, Jeannotte R, Sidjanin DJ.

Mamm Genome. 2011 Dec;22(11-12):661-73. doi: 10.1007/s00335-011-9354-2. Epub 2011 Aug 21.

14.

Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.

Elias PM, Crumrine D, Paller A, Rodriguez-Martin M, Williams ML.

Dermatoendocrinol. 2011 Apr;3(2):100-6. doi: 10.4161/derm.3.2.14831. Epub 2011 Apr 1.

15.

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Kieslich M, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K.

Nucleus. 2010 Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21.

16.

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J.

J Clin Invest. 2011 Mar;121(3):976-84. doi: 10.1172/JCI42650.

17.

Malformation syndromes caused by disorders of cholesterol synthesis.

Porter FD, Herman GE.

J Lipid Res. 2011 Jan;52(1):6-34. doi: 10.1194/jlr.R009548. Epub 2010 Oct 7. Review.

18.

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. Epub 2010 Aug 11.

19.

Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies.

Xu L, Korade Z, Porter NA.

J Am Chem Soc. 2010 Feb 24;132(7):2222-32. doi: 10.1021/ja9080265.

20.

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.

Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW.

J Korean Med Sci. 2010 Jan;25(1):159-62. doi: 10.3346/jkms.2010.25.1.159. Epub 2009 Dec 26.

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