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Items: 1 to 20 of 45

1.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
2.
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
Hideaki Tomita, Kelly M Hines, Josi M Herron, Amy Li, David W Baggett, Libin Xu
eLife. 2022; 11: e67141. Published online 2022 Sep 16. doi: 10.7554/eLife.67141
PMCID:
PMC9519149
AbstractArticlePDF–16M
3.
ALS-linked loss of Cyclin-F function affects HSP90
Alexander Siebert, Vanessa Gattringer, Jochen H Weishaupt, Christian Behrends
Life Sci Alliance. 2022 Dec; 5(12): e202101359. Published online 2022 Sep 16. doi: 10.26508/lsa.202101359
PMCID:
PMC9481933
AbstractArticlePDF–3.5M
4.
SMAD4 target genes are part of a transcriptional network that integrates the response to BMP and SHH signaling during early limb bud patterning
Julie Gamart, Iros Barozzi, Frédéric Laurent, Robert Reinhardt, Laurène Ramos Martins, Thomas Oberholzer, Axel Visel, Rolf Zeller, Aimée Zuniga
Development. 2021 Dec 1; 148(23): dev200182. Published online 2021 Dec 3. doi: 10.1242/dev.200182
PMCID:
PMC8714076
AbstractArticle
5.
The TRIM9/TRIM67 neuronal interactome reveals novel activators of morphogenesis
Shalini Menon, Dennis Goldfarb, Chris T. Ho, Erica W. Cloer, Nicholas P. Boyer, Christopher Hardie, Andrew J. Bock, Emma C. Johnson, Joel Anil, M. Ben Major, Stephanie L. Gupton
Mol Biol Cell. 2021 Feb 15; 32(4): 314–330. doi: 10.1091/mbc.E20-10-0622
PMCID:
PMC8098814
AbstractArticlePDF–7.7M
6.
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome
Babunageswararao Kanuri, Vincent Fong, Sithara Raju Ponny, Keri A. Tallman, Sriganesh Ramachandra Rao, Ned Porter, Steven J. Fliesler, Shailendra B. Patel
J Lipid Res. 2021; 62: 100002. Published online 2020 Nov 22. doi: 10.1194/jlr.RA120001101
PMCID:
PMC7890206
AbstractArticlePDF–3.2M
7.
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
AbstractArticlePDF–4.0M
8.
BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING)
Kou Motani, Hidetaka Kosako
J Biol Chem. 2020 Aug 7; 295(32): 11174–11183. Published online 2020 Jun 17. doi: 10.1074/jbc.RA120.014323
PMCID:
PMC7415991
AbstractArticlePDF–2.0M
9.
Desmosterolosis and desmosterol homeostasis in the developing mouse brain
Luke B. Allen, Thiago C. Genaro-Mattos, Ned A. Porter, Károly Mirnics, Zeljka Korade
J Inherit Metab Dis. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: J Inherit Metab Dis. 2019 Sep; 42(5): 934–943. Published online 2019 Apr 8. doi: 10.1002/jimd.12088
PMCID:
PMC6739189
AbstractArticlePDF–556K
10.
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
AbstractArticlePDF–813K
11.
Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function
Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang
Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626
PMCID:
PMC5381226
AbstractArticlePDF–1.4M
12.
7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome
Myriam Gou-Fàbregas, Anna Macià, Carlos Anerillas, Marta Vaquero, Mariona Jové, Sanjay Jain, Joan Ribera, Mario Encinas
Sci Rep. 2016; 6: 28534. Published online 2016 Jun 23. doi: 10.1038/srep28534
PMCID:
PMC4917867
AbstractArticlePDF–1.6M
13.
Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression
Wen-lin Xiao, Dai-zun Zhang, Hong Xu, Cui-zhu Zhuang
Biomed Res Int. 2016; 2016: 7532714. Published online 2016 Mar 15. doi: 10.1155/2016/7532714
PMCID:
PMC4811056
AbstractArticlePDF–2.0M
14.
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
AbstractArticlePDF–918K
15.
A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo
Melda Şişecioğlu, Harun Budak, Lars Geffers, Murat Çankaya, Mehmet Çiftci, Christina Thaller, Gregor Eichele, Ömer İrfan Küfrevioğlu, Hasan Özdemir
J Lipid Res. 2015 Aug; 56(8): 1551–1559. doi: 10.1194/jlr.M059634
PMCID:
PMC4513996
AbstractArticlePDF–3.4M
16.
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
AbstractArticlePDF–2.9M
17.
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
AbstractArticlePDF–778K
18.
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
AbstractArticlePDF–2.6M
19.
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
AbstractArticlePDF–1000K
20.
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
AbstractArticlePDF–742K

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