PMC Links for Gene (Select 13360) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 45

<< First< Prev

Page of 3

Select item 77219121.

Sterol and oxysterol synthases near the ciliary base activate the Hedgehog pathway

Sarah Findakly, Vikas Daggubati, Galo Garcia, III, Sydney A. LaStella, Abrar Choudhury, Cecilia Tran, Amy Li, Pakteema Tong, Jason Q. Garcia, Natasha Puri, Jeremy F. Reiter, Libin Xu, David R. Raleigh

J Cell Biol. 2021 Jan 4; 220(1): e202002026. Published online 2020 Dec 7. doi: 10.1083/jcb.202002026

PMCID:: PMC7721912

Abstract Article PDF–4.0M

Select item 54956062.

Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith Lemli Opitz Syndrome

Navila F Sharif, Zeljka Korade, Ned A Porter, Fiona E Harrison

Genes Brain Behav. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Genes Brain Behav. 2017 Jul; 16(6): 619–626. Published online 2017 Mar 15. doi: 10.1111/gbb.12376

PMCID:: PMC5495606

Abstract Article PDF–813K

Select item 43609213.

Molecular Consequences of Altered Neuronal Cholesterol Biosynthesis

Željka Korade, Anne K. Kenworthy, Károly Mirnics

J Neurosci Res. Author manuscript; available in PMC 2015 Mar 16.

Published in final edited form as: J Neurosci Res. 2009 Mar; 87(4): 866–875. doi: 10.1002/jnr.21917

PMCID:: PMC4360921

Abstract Article PDF–2.9M

Select item 38866724.

A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome

Wei Liu, Libin Xu, Connor Lamberson, Dorothea Haas, Zeljka Korade, Ned A. Porter

J Lipid Res. 2014 Feb; 55(2): 329–337. doi: 10.1194/jlr.D043877

PMCID:: PMC3886672

Abstract Article PDF–778K

Select item 36059895.

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

Libin Xu, Zeljka Korade, Dale A. Rosado, Jr., Karoly Mirnics, Ned A. Porter

J Lipid Res. 2013 Apr; 54(4): 1135–1143. doi: 10.1194/jlr.M035733

PMCID:: PMC3605989

Abstract Article PDF–1000K

Select item 32070146.

7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductase

Ling Zou, Li Li, Todd D. Porter

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: J Steroid Biochem Mol Biol. 2011 Nov; 127(3-5): 435–438. Published online 2011 Jul 5. doi: 10.1016/j.jsbmb.2011.06.011

PMCID:: PMC3207014

Abstract Article PDF–742K

Select item 29664727.

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

Xavier Matabosch, Lee Ying, Montserrat Serra, Christopher A. Wassif, Forbes D. Porter, Cedric Shackleton, Gordon Watson

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: J Steroid Biochem Mol Biol. 2010 Nov; 122(5): 303–309. Published online 2010 Aug 26. doi: 10.1016/j.jsbmb.2010.08.004

PMCID:: PMC2966472

Abstract Article PDF–251K

Select item 29644388.

Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

Montserrat Serra, Xavier Matabosch, Lee Ying, Gordon Watson, Cedric Shackleton

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: J Steroid Biochem Mol Biol. 2010 Nov; 122(5): 318–325. Published online 2010 Sep 6. doi: 10.1016/j.jsbmb.2010.08.006

PMCID:: PMC2964438

Abstract Article PDF–834K

Select item 29524489.

Nanostructure-Initiator Mass Spectrometry (NIMS) Imaging of Brain Cholesterol Metabolites in Smith-Lemli-Opitz Syndrome

Gary J. Patti, Leah P. Shriver, Christopher A. Wassif, Hin-Koon Woo, Wilasinee Uritboonthai, Jon Apon, Marianne Manchester, Forbes D. Porter, Gary Siuzdak

Neuroscience. Author manuscript; available in PMC 2011 Oct 27.

Published in final edited form as: Neuroscience. 2010 Oct 27; 170(3): 858–864. Published online 2010 Jul 27. doi: 10.1016/j.neuroscience.2010.07.038

PMCID:: PMC2952448

Abstract Article PDF–935K

Select item 291123510.

Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome)

Josep Marcos, Cedric H.L. Shackleton, Madhavee M. Buddhikot, Forbes D. Porter, Gordon L. Watson

Steroids. Author manuscript; available in PMC 2010 Jul 28.

Published in final edited form as: Steroids. 2007 Oct; 72(11-12): 802–808. Published online 2007 Jul 13. doi: 10.1016/j.steroids.2007.07.002

PMCID:: PMC2911235

Abstract Article PDF–724K

Select item 212120011.

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

Martina Kovarova, Christopher A. Wassif, Sandra Odom, Katherine Liao, Forbes D. Porter, Juan Rivera

J Exp Med. 2006 May 15; 203(5): 1161–1171. doi: 10.1084/jem.20051701

PMCID:: PMC2121200

Abstract Article PDF–489K

Select item 185592112.

Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice

Hongwei Yu, Man Li, G Stephen Tint, Jianliang Chen, Guorong Xu, Shailendra B Patel

BMC Dev Biol. 2007; 7: 27. Published online 2007 Apr 4. doi: 10.1186/1471-213X-7-27

PMCID:: PMC1855921

Abstract Article PDF–1.5M

Select item 20092713.

7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

Barbara U. Fitzky, Fabian F. Moebius, Hitoshi Asaoka, Heather Waage-Baudet, Liwen Xu, Guorong Xu, Nobuyo Maeda, Kimberly Kluckman, Sylvia Hiller, Hongwei Yu, Ashok K. Batta, Sarah Shefer, Thomas Chen, Gerald Salen, Kathleen Sulik, Robert D. Simoni, Gene C. Ness, Hartmut Glossmann, Shailendra B. Patel, G.S. Tint

J Clin Invest. 2001 Sep 15; 108(6): 905–915. doi: 10.1172/JCI12103

PMCID:: PMC200927

Abstract Article PDF–2.2M

Select item 474369014.

Reduced cholesterol levels impair Smoothened activation in Smith–Lemli–Opitz syndrome

Robert Blassberg, James I. Macrae, James Briscoe, John Jacob

Hum Mol Genet. 2016 Feb 15; 25(4): 693–705. Published online 2015 Dec 18. doi: 10.1093/hmg/ddv507

PMCID:: PMC4743690

Abstract Article PDF–918K

Select item 367477515.

DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemi-Opitz Syndrome model

Libin Xu, Karoly Mirnics, Aaron B. Bowman, Wei Liu, Jennifer Da, Ned Porter, Zeljka Korade

Neurobiol Dis. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Neurobiol Dis. 2012 Mar; 45(3): 923–929. Published online 2011 Dec 11. doi: 10.1016/j.nbd.2011.12.011

PMCID:: PMC3674775

Abstract Article PDF–2.6M

Select item 293808316.

Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis: IDENTIFICATION OF ALTERED METABOLIC PATHWAYS IN DHCR7 and SC5D DEFICIENCY

Xiao-Sheng Jiang, Peter S. Backlund, Christopher A. Wassif, Alfred L. Yergey, Forbes D. Porter

Mol Cell Proteomics. 2010 Jul; 9(7): 1461–1475. Published online 2010 Mar 19. doi: 10.1074/mcp.M900548-MCP200

PMCID:: PMC2938083

Abstract Article PDF–559K

Select item 292995617.

Steroid production and Excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Δ⁷-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome

Xavier Matabosch, Mahbuba Rahman, Beverly Hughes, Shailendra B. Patel, Gordon Watson, Cedric Shackleton

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2010 Aug 30.

Published in final edited form as: J Steroid Biochem Mol Biol. 2009 Aug; 116(1-2): 61–70. Published online 2009 May 3. doi: 10.1016/j.jsbmb.2009.04.011