Literature DB >> 8709748

Desmosterolosis: a new inborn error of cholesterol biosynthesis.

P Clayton, K Mills, J Keeling, D FitzPatrick.   

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Year:  1996        PMID： 8709748     DOI： 10.1016/s0140-6736(05)65020-9

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  13 in total

Review 1.  Malformation syndromes due to inborn errors of cholesterol synthesis.

Authors:  Forbes D Porter
Journal:  J Clin Invest       Date:  2002-09       Impact factor: 14.808

Review 2.  The ins and outs of cholesterol in the vertebrate retina.

Authors:  Steven J Fliesler; Lionel Bretillon
Journal:  J Lipid Res       Date:  2010-09-22       Impact factor: 5.922

Review 3.  Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Authors:  Massimiliano Rossi; Christine M Hall; Raymonde Bouvier; Sophie Collardeau-Frachon; Frédérique Le Breton; Martine Bucourt; Marie Pierre Cordier; Christine Vianey-Saban; Giancarlo Parenti; Generoso Andria; Martine Le Merrer; Patrick Edery; Amaka C Offiah
Journal:  Pediatr Radiol       Date:  2015-02-03

Review 4.  Disorders of cholesterol biosynthesis.

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

5.  Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Authors:  Frances M Platt; Christopher Wassif; Alexandria Colaco; Andrea Dardis; Emyr Lloyd-Evans; Bruno Bembi; Forbes D Porter
Journal:  Annu Rev Genomics Hum Genet       Date:  2014       Impact factor: 8.929

6.  Retinal structure and function in an animal model that replicates the biochemical hallmarks of desmosterolosis.

Authors:  S J Fliesler; M J Richards; C Miller; N S Peachey; R J Cenedella
Journal:  Neurochem Res       Date:  2000-05       Impact factor: 3.996

7.  7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.

Authors:  B U Fitzky; F F Moebius; H Asaoka; H Waage-Baudet; L Xu; G Xu; N Maeda; K Kluckman; S Hiller; H Yu; A K Batta; S Shefer; T Chen; G Salen; K Sulik; R D Simoni; G C Ness; H Glossmann; S B Patel; G S Tint
Journal:  J Clin Invest       Date:  2001-09       Impact factor: 14.808

8.  Seladin-1 is a novel lipopolysaccharide (LPS)-responsive gene and inhibits the tumour necrosis factor-alpha production and osteoclast formation in response to LPS.

Authors:  Imtiaz I-E Khuda; Naoki Koide; Abu S M Noman; Jargalsaikhan Dagvadorj; Gantsetseg Tumurkhuu; Yoshikazu Naiki; Takayuki Komatsu; Tomoaki Yoshida; Takashi Yokochi
Journal:  Immunology       Date:  2010-04-06       Impact factor: 7.397

Review 9.  The enantiomer of cholesterol.

Authors:  E J Westover; D F Covey
Journal:  J Membr Biol       Date:  2004-11       Impact factor: 1.843

10.  Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1.

Authors:  Sandeep Goyal; Yi Xiao; Ned A Porter; Libin Xu; F Peter Guengerich
Journal:  J Lipid Res       Date:  2014-07-13       Impact factor: 5.922
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