Zobrazeno 1 - 10
of 853
pro vyhledávání: '"G Salen"'
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 11, Pp 2433-2438 (1996)
A new sensitive and specific method for the evaluation of 3 beta-hydroxysteroid delta 7-reductase activity, the defective enzyme in the Smith-Lemli-Opitz (SLO) syndrome, is described. The assay is based on the use of gas chromatography-mass spectrome
Externí odkaz:
https://doaj.org/article/5048b5cf7f1447e6ae7c45d100db35b7
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 6, Pp 1169-1180 (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. As a result, def
Externí odkaz:
https://doaj.org/article/b665f78ca9a84da79f8cc533271b7db1
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 11, Pp 2413-2418 (1995)
We have identified the third unknown sterol in the plasma and tissues of Smith-Lemli-Opitz homozygotes as 19-nor-5,7,9(10)-cholestatrien-3 beta-ol. The structure was established from capillary gas-liquid chromatography retention index and characteris
Externí odkaz:
https://doaj.org/article/8c8f6d9329b54b00ada25c4040f0742a
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 7, Pp 1595-1601 (1995)
The Smith-Lemli-Opitz syndrome is a common birth defect syndrome characterized biochemically by low plasma cholesterol levels and high concentrations of the cholesterol precursor 7-dehydrocholesterol. The present study was undertaken to prove that th
Externí odkaz:
https://doaj.org/article/9183cfe49b9b419d95bd2ee20bdc740f
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 4, Pp 705-713 (1995)
Cholesta-5,8-dien-3 beta-ol (8-dehydrocholesterol) and cholesta-5,7-dien-3 beta-ol (7-dehydrocholesterol) were isolated from the fecal neutral sterol fraction from homozygotes with Smith-Lemli-Opitz syndrome. The structures of the sterols were conclu
Externí odkaz:
https://doaj.org/article/7e4a674d224e492aba99050003ccca4e
Autor:
G S Tint, M Seller, R Hughes-Benzie, A K Batta, S Shefer, D Genest, M Irons, E Elias, G Salen
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 1, Pp 89-95 (1995)
The Smith-Lemli-Opitz syndrome is an autosomal recessive birth defect (frequency 1:20,000-1:40,000) that results in profound mental retardation, physical deformities, and failure to thrive. It is characterized biochemically by low plasma cholesterol
Externí odkaz:
https://doaj.org/article/3be91b7562424f51af9fd5be2f7a7492
Publikováno v:
Journal of Lipid Research, Vol 35, Iss 10, Pp 1878-1887 (1994)
We investigated the relationship between plasma cholestanol (5 alpha-dihydrocholesterol) concentrations and the activity and mRNA levels of cholesterol 7 alpha-hydroxylase, the rate-controlling enzyme for bile acid synthesis, in three female sitoster
Externí odkaz:
https://doaj.org/article/b71bcc03515d4d83944ae3099fa7327a
Publikováno v:
Journal of Lipid Research, Vol 33, Iss 9, Pp 1403-1407 (1992)
Gas-liquid chromatographic separation of C23, C24, C25, C26, and C27 bile alcohols with either 3 alpha, 7 alpha-dihydroxylated or 3 alpha, 7 alpha, 12 alpha-trihydroxylated ring system on two capillary columns, CP-Sil-19 CB and CP-Sil-5 CB, is descri
Externí odkaz:
https://doaj.org/article/0f910493aa9c461fad9210bf51749ac2
Publikováno v:
Journal of Lipid Research, Vol 33, Iss 8, Pp 1193-1200 (1992)
We investigated the effects of cholesterol, cholestyramine, and taurocholate feeding on steady state specific activities and mRNA levels of hepatic 3-hydroxy-3-methylglutaryl (HMG)-CoA reductase and cholesterol 7 alpha-hydroxylase in the rat. Interru
Externí odkaz:
https://doaj.org/article/b52a0cc42441478eaa33b876b7381605
Publikováno v:
Journal of Lipid Research, Vol 33, Iss 7, Pp 945-955 (1992)
Sitosterolemia is a rare inherited lipid storage disease characterized chemically by the accumulation of plant sterols and 5 alpha-saturated stanols in plasma and tissues. Very low cholesterol synthesis due to a deficiency of HMG-CoA reductase associ
Externí odkaz:
https://doaj.org/article/09710231b09f4da6af1167d5d6a2ca14