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

by Libin Xu, Karoly Mirnics, Aaron B. Bowman, Wei Liu, Jennifer Da, Ned A. Porter, Zeljka Korade
Published 2012-03-01

The Surprising Effect of Phenformin on Cutaneous Darkening and Characterization of Its Underlying Mechanism by a Forward Chemical Genetics Approach

by Kei Takano, Akira Hachiya, Daiki Murase, Akiko Kawasaki, Hirokazu Uda, Shinya Kasamatsu, Yoshiya Sugai, Yoshito Takahashi, Tadashi Hase, Atsushi Ohuchi, Tamio Suzuki
Published 2020-02-01

Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol

by Ingemar Björkhem, Lena Starck, Ulla Andersson, Dieter Lütjohann, Sara von Bahr, Irina Pikuleva, Amir Babiker, Ulf Diczfalusy
Published 2001-03-01

Enzyme blockade: a nonradioactive method to determine the absolute rate of cholesterol synthesis in the brain

by R. Kennedy Keller, Michael Small, Steven J. Fliesler
Published 2004-10-01

Regulation of 7-Dehydrocholesterol Reductase by Vitamin D3

by Zou, Ling
Published 2013

Oxidation of 7-dehydrocholesterol by a mouse liver microsomal system dependent on reduced pyridine nucleotides

by A.A. Kandutsch
Published 1966-09-01

Compartmentalized Reconstitution of Post-squalene Pathway for 7-Dehydrocholesterol Overproduction in Saccharomyces cerevisiae

by Xiao-Jing Guo, Xiao-Jing Guo, Ming-Dong Yao, Ming-Dong Yao, Wen-Hai Xiao, Wen-Hai Xiao, Ying Wang, Ying Wang, Guang-Rong Zhao, Guang-Rong Zhao, Ying-Jin Yuan, Ying-Jin Yuan
Published 2021-05-01

Associations of cholesterol and vitamin D metabolites with the risk for development of high grade colorectal cancer

by Vladimirov Sandra, Zeljković Aleksandra, Gojković Tamara, Miljković Milica, Stefanović Aleksandra, Zeljković Dejan, Trifunović Bratislav, Spasojević-Kalimanovska Vesna
Published 2020-01-01

Detection of 7-Dehydrocholesterol and Vitamin D3 Derivatives in Honey

by Tae-Kang Kim, Venkatram Atigadda, Pawel Brzeminski, Adrian Fabisiak, Edith K. Y. Tang, Robert C. Tuckey, Andrzej T. Slominski
Published 2020-06-01

Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome

by Shaohua Chang, Gongyi Ren, Robert D. Steiner, Louise Merkens, Jean-Baptiste Roullet, Zeljka Korade, Paul J. DiMuzio, Thomas N. Tulenko
Published 2014-01-01

Identification and characterization of prescription drugs that change levels of 7-dehydrocholesterol and desmosterol

by Phillip A. Wages, Hye-Young H. Kim, Zeljka Korade, Ned A. Porter
Published 2018-10-01

New insights into the role of cytochrome P450 reductase (POR) in microsomal redox biology

by Todd D. Porter
Published 2012-04-01

Sterol composition of shellfish species commonly consumed in the United States

by Katherine M. Phillips, David M. Ruggio, Jacob Exler, Kristine Y. Patterson
Published 2012-10-01

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

by F.B. Scalco, V.M. Cruzes, R.C. Vendramini, I.L. Brunetti, D. Moretti-Ferreira
Published 2003-10-01

Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience

by Begic N, Begic Z, Begic E
Published 2021-07-01

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

by Wei Liu, Libin Xu, Connor Lamberson, Dorothea Haas, Zeljka Korade, Ned A. Porter
Published 2014-02-01

Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

by Lee Ying, Xavier Matabosch, Montserrat Serra, Berna Watson, Cedric Shackleton, Gordon Watson
Published 2014-01-01

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

by Thomas N. Tulenko, Kathy Boeze-Battaglia, R. Preston Mason, G. Stephen Tint, Robert D. Steiner, William E. Connor, Edward F. Labelle
Published 2006-01-01

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S]

by Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Dorothea Haas, Ned A. Porter
Published 2013-01-01

HEPATIC CYTOCHROME P450 REDUCTASE-NULL MICE AS AN ANIMAL MODEL TO STUDY ELECTRON TRANSFER PATHWAYS IN CHOLESTEROL SYNTHESIS AND CYP2E1-MEDIATED DRUG METABOLISM

by Li, Li
Published 2006