Literature DB >> 6820431

Cerebrotendinous xanthomatosis: a defect in cellular sterol biosynthetic control.

J L Barron, J U Maxwell, G S Rutherfoord.   

Abstract

A mentally retarded woman with tendon xanthomata and normal serum cholesterol concentration was found to have raised cholestanol concentrations in the serum and in a xanthoma. This confirmed the diagnosis of cerebrotendinous xanthomatosis (CBX). No specific lipoprotein fraction was found to transport cholestanol. For the first time cultured fibroblasts from a patient with CBX were found to accumulate cholestanol.

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Year:  1982        PMID： 6820431     DOI： 10.1007/bf01799999

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


  10 in total

1.  CONVERSION OF CHOLESTEROL TO 5-ALPHA-CHOLESTAN-3-BETA-OL IN GERMFREE GUINEA PIGS.

Authors:  H WERBIN; I L CHAIKOFF; B P PHILLIPS
Journal:  Biochemistry       Date:  1964-10       Impact factor: 3.162

2.  Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism.

Authors:  G Salen
Journal:  Ann Intern Med       Date:  1971-12       Impact factor: 25.391

3.  Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system.

Authors:  J H Menkes; J R Schimschock; P D Swanson
Journal:  Arch Neurol       Date:  1968-07

4.  Direct quantitation of cholestanol in plasma by gas-liquid chromatography.

Authors:  T T Ishikawa; J B Brazier; L E Stewart; R W Fallat; C J Glueck
Journal:  J Lab Clin Med       Date:  1976-02

5.  Cerebrotendinous xanthomatosis.

Authors:  A S Truswell; P J Pfister
Journal:  Br Med J       Date:  1972-02-05

6.  Studies on the biosynthesis of 5-alpha-cholestan-3-beta-ol. I. Cholestenone 5-alpha-reductase of rat liver.

Authors:  S Shefer; S Hauser; E H Mosbach
Journal:  J Biol Chem       Date:  1966-02-25       Impact factor: 5.157

7.  Biosynthesis of 5 -cholestan-3 -ol in cerebrotendinous xanthomatosis.

Authors:  G Salen; A Polito
Journal:  J Clin Invest       Date:  1972-01       Impact factor: 14.808

8.  The metabolism of cholestanol, cholesterol, and bile acids in cerebrotendinous xanthomatosis.

Authors:  G Salen; S M Grundy
Journal:  J Clin Invest       Date:  1973-11       Impact factor: 14.808

9.  Biosynthesis of cholestanol: 5-alpha-cholestan-3-one reductase of rat liver.

Authors:  S Shefer; S Hauser; E H Mosbach
Journal:  J Lipid Res       Date:  1966-11       Impact factor: 5.922

10.  Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.

Authors:  H Oftebro; I Björkhem; S Skrede; A Schreiner; J I Pederson
Journal:  J Clin Invest       Date:  1980-06       Impact factor: 14.808
  10 in total

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