Results 21 to 30 of about 1,719 (107)

Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2021
Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes the enzyme 3β-hydroxysterol-Δ7 reductase.
Babunageswararao Kanuri, Vincent Fong, Sithara Raju Ponny, Keri A. Tallman, Sriganesh Ramachandra Rao, Ned Porter, Steven J. Fliesler, Shailendra B. Patel   +7 more
doaj   +1 more source

The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally[S]

Journal of Lipid Research, 2015
Cholesterol is essential to human health, and its levels are tightly regulated by a balance of synthesis, uptake, and efflux. Cholesterol synthesis requires the actions of more than twenty enzymes to reach the final product, through two alternate ...
Winnie Luu, Gene Hart-Smith, Laura J. Sharpe, Andrew J. Brown   +3 more
doaj   +1 more source

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome[S]

Journal of Lipid Research, 2010
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic and developmental disorder caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol reductase (Dhcr7).
Zeljka Korade, Libin Xu, Richard Shelton, Ned A. Porter   +3 more
doaj   +1 more source

Vulnerability of DHCR7+/− mutation carriers to aripiprazole and trazodone exposure

Journal of Lipid Research, 2017
Smith-Lemli-Opitz syndrome is a recessive disorder caused by mutations in 7-dehydrocholesterol reductase (DHCR)7 with a heterozygous (HET) carrier frequency of 1–3%.
Zeljka Korade, Thiago C. Genaro-Mattos, Keri A. Tallman, Wei Liu, Krassimira A. Garbett, Katalin Koczok, Istvan Balogh, Karoly Mirnics, Ned A. Porter   +8 more
doaj   +1 more source

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

Molecular Genetics and Metabolism Reports, 2014
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol.
Lee Ying, Xavier Matabosch, Montserrat Serra, Berna Watson, Cedric Shackleton, Gordon Watson   +5 more
doaj   +1 more source

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

Neurobiology of Disease, 2012
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase (DHCR7), the last enzyme in the pathway, lead to the accumulation of 7 ...
Libin Xu, Karoly Mirnics, Aaron B. Bowman, Wei Liu, Jennifer Da, Ned A. Porter, Zeljka Korade   +6 more
doaj   +1 more source

Engineering of Saccharomyces cerevisiae for 24-Methylene-Cholesterol Production

Biomolecules, 2021
24-Methylene-cholesterol is a necessary substrate for the biosynthesis of physalin and withanolide, which show promising anticancer activities. It is difficult and costly to prepare 24-methylene-cholesterol via total chemical synthesis. In this study, we
Jiao Yang, Changfu Li, Yansheng Zhang
doaj   +1 more source

Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study [PDF]

Endocrinology and Metabolism, 2021
Background Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea.
Ye An Kim, Ji Won Yoon, Young Lee, Hyuk Jin Choi, Jae Won Yun, Eunsin Bae, Seung-Hyun Kwon, So Eun Ahn, Ah-Ra Do, Heejin Jin, Sungho Won, Do Joon Park, Chan Soo Shin, Je Hyun Seo   +13 more
doaj   +1 more source

Engineering Yarrowia lipolytica for Campesterol Overproduction. [PDF]

PLoS ONE, 2016
Campesterol is an important precursor for many sterol drugs, e.g. progesterone and hydrocortisone. In order to produce campesterol in Yarrowia lipolytica, C-22 desaturase encoding gene ERG5 was disrupted and the heterologous 7-dehydrocholesterol ...
Hao-Xing Du, Wen-Hai Xiao, Ying Wang, Xiao Zhou, Yu Zhang, Duo Liu, Ying-Jin Yuan   +6 more
doaj   +1 more source

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

Journal of Lipid Research, 2014
We describe a highly sensitive method for the detection of 7-dehydrocholesterol (7-DHC), the biosynthetic precursor of cholesterol, based on its reactivity with 4-phenyl-1,2,4-triazoline-3,5-dione (PTAD) in a Diels-Alder cycloaddition reaction.
Wei Liu, Libin Xu, Connor Lamberson, Dorothea Haas, Zeljka Korade, Ned A. Porter   +5 more
doaj   +1 more source