Results 21 to 30 of about 13,198 (194)

Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver

Journal of Lipid Research, 1999
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda, Gerald Salen, Sarah Shefer, Ashok K. Batta, Megumi Honda, Guorong Xu, G. Stephen Tint, Yasushi Matsuzaki, Junichi Shoda, Naomi Tanaka   +9 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

Introducing the concept of biocatalysis in the classroom: The conversion of cholesterol to provitamin D 3 [PDF]

, 2016
Biocatalysis is a fundamental concept in biotechnology. The topic integrates knowledge of several disciplines; therefore, it was included in the course “design and optimization of biological systems” which is offered in the biochemistry curricula.
De Luca, Belén M., Gonzalez, Rodrigo Horacio, Nudel, Berta Clara, Nusblat, Alejandro David   +3 more
core   +1 more source

A New Route to 7-Dehydrocholesterol, Provitamin D3 [PDF]

Nature, 1946
IN 1935, Windaus, Lettre and Schenck1 described the preparation from cholesterol (I) of 7-dehydrocholesterol (III), which on irradiation gave a highly antirachitic product (vitamin D3), later2 shown to be identical with the naturally occurring vitamin D isolated from tunny liver oil.
H. B. HENBEST, E. R. H. JONES, A. E. BIDE, R. W. PEEVERS, P. A. WILKINSON   +4 more
openaire   +2 more sources

Variability in genes regulating vitamin D metabolism is associated with vitamin D levels in type 2 diabetes [PDF]

, 2018
Mortality rate is increased in type 2 diabetes (T2D). Low vitamin D levels are associated with increased mortality risk in T2D. In the general population, genetic variants affecting vitamin D metabolism (DHCR7 rs12785878, CYP2R1 rs10741657, GC rs4588 ...
Alessi, Elena, Bagella, FRANCESCO MARIA, Bailetti, Diego, Barchetta, Ilaria, Baroni Marco, Giorgio., Bertoccini, Laura, Buzzetti, Raffaella, Capoccia, Danila, Cavallo, Maria Gisella, Coccia, Federica, Conti, Francesco, Copetti, Massimiliano, Cossu, Efisio, D'Angelo, Paola, D'Onofrio, Luca, De Cosmo, Salvatore, Di Mauro, Lazzaro, Filardi, Tiziana, Gianluca, Margiotta, Giulia, Leanza, Incani, Michela, Leonetti, Frida, Maria Giovanna Scarale,, Morano, Susanna, Moretti, Chiara, Morviducci, Lelio, Napoli, Nicola, Pamela, Piscitelli, Pezzilli, Serena, Pibiri, Carlotta, Prudente, Sabrina, Pugliese, Giuseppe, Sentinelli, Federica, Silvia, Carletti, SUMMER Study in Diabetes Group (Summer,, Tavaglione, Federica, Trischitta, Vincenzo   +36 more
core   +1 more source

Besnoitia besnoiti infection alters both endogenous cholesterol de novo synthesis and exogenous LDL uptake in host endothelial cells [PDF]

, 2008
Besnoitia besnoiti, an apicomplexan parasite of cattle being considered as emergent in Europe, replicates fast in host endothelial cells during acute infection and is in considerable need for energy, lipids and other building blocks for offspring ...
Silva, Liliana M. R., Lütjohann, Dieter, Hamid, Penny, Velasquez, Zahady D., Kerner, Katharina, Larrazabal, Camilo, Failing, Klaus, Hermosilla, Carlos, Taubert, Anja   +8 more
core   +2 more sources

Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome.

Journal of Lipid Research, 1996
The impaired conversion of 7-dehydrocholesterol to cholesterol, as a result of a permanent inhibition of the activity of 7-dehydrocholesterol-delta 7-reductase, has been reported in the Smith-Lemli-Opitz (SLO) syndrome (1, 2).
C Wolf, F Chevy, J Pham, M Kolf-Clauw, D Citadelle, N Mulliez, C Roux   +6 more
doaj   +1 more source

Enzymatic Metabolism of Ergosterol by Cytochrome P450scc to Biologically Active 17α,24-Dihydroxyergosterol [PDF]

, 2005
SummaryWe demonstrate the metabolism of ergosterol by cytochrome P450scc in either a reconstituted system or isolated adrenal mitochondria. The major reaction product was identified as 17α,24-dihydroxyergosterol.
Gandy, Michael N., Li, Jinghu, Li, Wei, Semak, Igor, Slominski, Andrzej, Tuckey, Robert C., Wortsman, Jacobo, Zbytek, Blazej, Zjawiony, Jordan   +8 more
core   +1 more source

7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts

Journal of Lipid Research, 1998
The Smith-Lemli-Opitz syndrome (SLOS) is a common birth defect–mental retardation syndrome caused by a defect in the enzyme that reduces 7-dehydrocholesterol to cholesterol.
Megumi Honda, G.S. Tint, Akira Honda, Lien B. Nguyen, Thomas S. Chen, Sarah Shefer   +5 more
doaj   +1 more source

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Journal of Lipid Research, 1996
The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol.
G Salen, S Shefer, A K Batta, G S Tint, G Xu, A Honda, M Irons, E R Elias   +7 more
doaj   +1 more source