Literature DB >> 9686383

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.

R J Wanders1, G J Romeijn.   

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Year:  1998        PMID： 9686383     DOI： 10.1023/a:1005353129761

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  13 in total

1.  Peroxisomes: Organelles at the crossroads.

Authors:  R Erdmann; M Veenhuis; W H Kunau
Journal:  Trends Cell Biol       Date:  1997-10       Impact factor: 20.808

2.  Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver.

Authors:  R J Wanders; G J Romeijn
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 3.  Cell compartmentalization of cholesterol biosynthesis.

Authors:  S K Krisans
Journal:  Ann N Y Acad Sci       Date:  1996-12-27       Impact factor: 5.691

4.  Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.

Authors:  G A Jansen; S J Mihalik; P A Watkins; H W Moser; C Jakobs; H S Heijmans; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

Authors:  N Braverman; G Steel; C Obie; A Moser; H Moser; S J Gould; D Valle
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

6.  Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.

Authors:  A M Motley; E H Hettema; E M Hogenhout; P Brites; A L ten Asbroek; F A Wijburg; F Baas; H S Heijmans; H F Tabak; R J Wanders; B Distel
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

7.  Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

Authors:  P E Purdue; J W Zhang; M Skoneczny; P B Lazarow
Journal:  Nat Genet       Date:  1997-04       Impact factor: 38.330

8.  Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

Authors:  B L Schafer; R W Bishop; V J Kratunis; S S Kalinowski; S T Mosley; K M Gibson; R D Tanaka
Journal:  J Biol Chem       Date:  1992-07-05       Impact factor: 5.157

9.  Mevalonate kinase is localized in rat liver peroxisomes.

Authors:  K D Stamellos; J E Shackelford; R D Tanaka; S K Krisans
Journal:  J Biol Chem       Date:  1992-03-15       Impact factor: 5.157

10.  3-Hydroxy-3-methylglutaryl-coenzyme A reductase is present in peroxisomes in normal rat liver cells.

Authors:  G A Keller; M C Barton; D J Shapiro; S J Singer
Journal:  Proc Natl Acad Sci U S A       Date:  1985-02       Impact factor: 11.205
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  2 in total

Review 1.  Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.

Authors:  P E Purdue; M Skoneczny; X Yang; J W Zhang; P B Lazarow
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

2.  Squalene epoxidase (SQLE) promotes the growth and migration of the hepatocellular carcinoma cells.

Authors:  Zhenghui Sui; Jiahua Zhou; Zhangjun Cheng; Penhua Lu
Journal:  Tumour Biol       Date:  2015-03-19
  2 in total

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