Literature DB >> 7616117

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.

A K Batta1, G S Tint, S Shefer, D Abuelo, G Salen.   

Abstract

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 conclusively established from their mass spectra and 1H and 13C nuclear magnetic resonance spectra. It is probable that 8-dehydrocholesterol arises from 7-dehydrocholesterol and is not a direct precursor of cholesterol.

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Year:  1995        PMID： 7616117

Source DB:  PubMed          Journal:  J Lipid Res        ISSN： 0022-2275            Impact factor:   5.922


  26 in total

1.  Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome.

Authors:  A K Batta; G Salen
Journal:  Indian J Pediatr       Date:  1996 Mar-Apr       Impact factor: 1.967

Review 2.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

3.  Blocking cholesterol synthesis impairs acquisition of the classically conditioned eyeblink response.

Authors:  W T O'Brien; G Xu; G S Tint; G Salen; R J Servatius
Journal:  Integr Physiol Behav Sci       Date:  2000 Apr-Jun

Review 4.  Review of progress in sterol oxidations: 1987-1995.

Authors:  L L Smith
Journal:  Lipids       Date:  1996-05       Impact factor: 1.880

5.  Silver ion high pressure liquid chromatography provides unprecedented separation of sterols: application to the enzymatic formation of cholesta-5,8-dien-3 beta-ol.

Authors:  B Ruan; J Shey; N Gerst; W K Wilson; G J Schroepfer
Journal:  Proc Natl Acad Sci U S A       Date:  1996-10-15       Impact factor: 11.205

Review 6.  Disorders of cholesterol biosynthesis.

Authors:  P T Clayton
Journal:  Arch Dis Child       Date:  1998-02       Impact factor: 3.791

7.  Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome.

Authors:  A van Rooij; A A Nijenhuis; F A Wijburg; R B Schutgens
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

8.  Molecular cloning and expression of the human delta7-sterol reductase.

Authors:  F F Moebius; B U Fitzky; J N Lee; Y K Paik; H Glossmann
Journal:  Proc Natl Acad Sci U S A       Date:  1998-02-17       Impact factor: 11.205

9.  Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

Authors:  C Mueller; S Patel; M Irons; K Antshel; G Salen; G S Tint; C Bay
Journal:  Am J Med Genet A       Date:  2003-11-15       Impact factor: 2.802

10.  Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.

Authors:  William J Griffiths; Jonas Abdel-Khalik; Peter J Crick; Michael Ogundare; Cedric H Shackleton; Karin Tuschl; Mei Kwun Kwok; Brian W Bigger; Andrew A Morris; Akira Honda; Libin Xu; Ned A Porter; Ingemar Björkhem; Peter T Clayton; Yuqin Wang
Journal:  J Steroid Biochem Mol Biol       Date:  2016-03-11       Impact factor: 4.292
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