Zobrazeno 1 - 10
of 118
pro vyhledávání: '"G. S. Tint"'
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 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 27, Iss 12, Pp 1328-1332 (1990)
The configuration at C-25 in 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha,25,26-pentol isolated from the bile and feces of patients with cerebrotendinous xanthomtosis (CTX) was determined from the lanthanide-induced circular dichroism (CD) Cotton eff
Externí odkaz:
https://doaj.org/article/16b017eec1b64503becdd1179b0f41ab
Autor:
Miguel A. Pappolla, Stephen D. Schmidt, Brian Malester, Marc Mercken, John LaFrancois, T. Thomas-Bryant, Suzana Petanceska, Lorenzo M. Refolo, G. S. Tint, Karen Duff, Rong Wang
Publikováno v:
Neurobiology of Disease, Vol 8, Iss 5, Pp 890-899 (2001)
Clinical, epidemiological, and laboratory studies suggest that cholesterol may play a role in the pathogenesis of Alzheimer's disease (AD). Transgenic mice exhibiting an Alzheimer's beta-amyloid phenotype were treated with the cholesterol-lowering dr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b977bbda6464dc57e3053af74b7ff0
http://www.sciencedirect.com/science/article/pii/S096999610190422X
http://www.sciencedirect.com/science/article/pii/S096999610190422X