Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis (Q28274736)

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English	Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis	scientific article

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instance of

scholarly article

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title

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis (English)

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main subject

cerebrotendinous xanthomatosis

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inferred from title

author name string

J J Cali

series ordinal

1

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C L Hsieh

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2

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U Francke

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3

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D W Russell

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4

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language of work or name

English

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publication date

25 April 1991

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published in

Journal of Biological Chemistry

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volume

266

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issue

12

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page(s)

7779-83

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cites work

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

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Hydroxylations in biosynthesis of bile acids. Isolation of a cytochrome P-450 from rabbit liver mitochondria catalyzing 26-hydroxylation of C27-steroids

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20 March 2017

Domain map of the LDL receptor: Sequence homology with the epidermal growth factor precursor

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20 March 2017

Genomic sequencing

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20 March 2017

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20 March 2017

The CpG dinucleotide and human genetic disease

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20 March 2017

Apolipoprotein E: cholesterol transport protein with expanding role in cell biology

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20 March 2017

Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen----q13

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20 March 2017

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

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20 March 2017

Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues

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20 March 2017

Mapping of genes for inhibin subunits alpha, beta A, and beta B on human and mouse chromosomes and studies of jsd mice

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20 March 2017

Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme

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20 March 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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20 March 2017

Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis

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20 March 2017

Detection of specific sequences among DNA fragments separated by gel electrophoresis

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20 March 2017

DNA sequencing with chain-terminating inhibitors

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20 March 2017

Cloning and regulation of cholesterol 7 alpha-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis

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20 March 2017

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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7 April 2017

Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin

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29 September 2017

Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study

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29 September 2017

The plasma lecithins:cholesterol acyltransferase reaction

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PubMed Central

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29 September 2017

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

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PubMed Central

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29 September 2017

Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis

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PubMed Central

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29 September 2017

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor

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29 September 2017

Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands

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29 September 2017

The molecular biology of cytochrome P450s.

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29 September 2017

Assignment of the functional gene for human adrenodoxin to chromosome 11q13----qter and of adrenodoxin pseudogenes to chromosome 20cen----q13.1.

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29 September 2017

The P450 superfamily: update on new sequences, gene mapping, and recommended nomenclature

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29 September 2017

Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis

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PubMed Central

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29 September 2017

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia

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2 June 2018

Quantitative analysis of the mitochondrial cytochrome P-450-linked monooxygenase system: NADPH-hepatoredoxin reductase, hepatoredoxin, and cytochrome P-450s27 in livers of patients with cerebrotendinous xanthomatosis

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PubMed Central

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2 June 2018

Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid

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PubMed Central

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2 June 2018

Fluorescein isothiocyanate specifically modifies lysine 338 of cytochrome P-450scc and inhibits adrenodoxin binding

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PubMed Central

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2 June 2018

Cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system

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27 November 2018

32 Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

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Hereditary tendinous and tuberous xanthomatosis without hyperlipidemia. A new lipid-storage disorder

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12 December 2020

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Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous Xanthomatosis

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19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

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Cerebrotendinous xanthomatosis

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2019602

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

4449724

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PubMed publication ID

2019602

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