Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans. (Q33944867)

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7 November 2019

review article

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title

Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans (English)

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7 November 2019

1

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7 November 2019

Ingemar Björkhem

series ordinal

2

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7 November 2019

author name string

E Leitersdorf

series ordinal

3

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7 November 2019

publication date

1 July 2000

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Trends in Endocrinology and Metabolism

7 November 2019

published in

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7 November 2019

volume

11

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7 November 2019

issue

5

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7 November 2019

page(s)

180-183

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Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system

7 November 2019

cites work

1 reference

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7 January 2021

A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Atherosclerosis and sterol 27-hydroxylase: evidence for a role of this enzyme in elimination of cholesterol from human macrophages

1 reference

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7 January 2021

Importance of a novel oxidative mechanism for elimination of intracellular cholesterol in humans

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900255-1

7 January 2021

Elimination of cholesterol in macrophages and endothelial cells by the sterol 27-hydroxylase mechanism. Comparison with high density lipoprotein-mediated reverse cholesterol transport

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900255-1

7 January 2021

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1043-2760%2800%2900255-1

7 January 2021

A novel pathway for biosynthesis of cholestanol with 7 alpha-hydroxylated C27-steroids as intermediates, and its importance for the accumulation of cholestanol in cerebrotendinous xanthomatosis

1 reference

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7 January 2021

Effect of Cholestanol Feeding on Sterol Concentrations in the Serum, Liver, and Cerebellum of Mice1

1 reference

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7 January 2021

Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene.

1 reference

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7 January 2021

10.1016/S1043-2760(00)00255-1

Identifiers

DOI

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7 November 2019

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