Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees (Q28350244)

6 July 2017

title

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees (English)

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cerebrotendinous xanthomatosis

6 July 2017

main subject

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M H Lee

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6 July 2017

S Hazard

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6 July 2017

J D Carpten

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6 July 2017

S Yi

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6 July 2017

J Cohen

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6 July 2017

G T Gerhardt

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6 July 2017

G Salen

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6 July 2017

S B Patel

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6 July 2017

language of work or name

English

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publication date

1 February 2001

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Journal of Lipid Research

6 July 2017

published in

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6 July 2017

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6 July 2017

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6 July 2017

page(s)

159-169

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Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis

6 July 2017

cites work

1 reference

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A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity

20 March 2017

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Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families

20 March 2017

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

20 March 2017

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Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)

20 March 2017

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Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

20 March 2017

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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

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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Knowledge-Based Protein Modeling

20 March 2017

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Parametric and nonparametric linkage analysis: a unified multipoint approach

20 March 2017

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Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

20 March 2017

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Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

29 September 2017

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Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease

29 September 2017

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Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

29 September 2017

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Liver mitochondrial P450 involved in cholesterol catabolism and vitamin D activation.

29 September 2017

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Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics

29 September 2017

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The molecular biology of cytochrome P450s.

29 September 2017

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Protein engineering and design

29 September 2017

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29 September 2017

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Mechanism of degradation of the steroid side chain in the formation of bile acids

29 September 2017

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29 September 2017

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From fold predictions to function predictions: automation of functional site conservation analysis for functional genome predictions

29 September 2017

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Functional analysis of the Escherichia coli genome for members of the alpha/beta hydrolase family

2 June 2018

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Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1418947

Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family

2 June 2018

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Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism

2 June 2018

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

2 June 2018

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Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.

2 June 2018

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Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis

2 June 2018

1 reference

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Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis.

27 November 2018

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Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing

27 November 2018

1 reference

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Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1418947

Enzymatic characteristics of CO-sensitive 26-hydroxylase system for 5beta-cholestane-3 alpha, 7 alpha, 12 alpha-triol in rat-liver mitochondria and its intramitochondrial localization

27 November 2018

1 reference

12 December 2020

The 2.6-A crystal structure of Pseudomonas putida cytochrome P-450

1 reference

12 December 2020

Paediatric cerebrotendinous xanthomatosis

1 reference

12 December 2020

Molecular modeling of the 3-D structure of cytochrome P-450scc

1 reference

12 December 2020

A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis

1 reference

12 December 2020

Problems and solutions in protein engineering--towards rational design

1 reference

12 December 2020

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

1 reference

12 December 2020

A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family

1 reference

12 December 2020

Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy

1 reference

12 December 2020

Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients

1 reference

12 December 2020

Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis

1 reference

12 December 2020

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

1 reference

12 December 2020

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

1 reference

12 December 2020

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis

1 reference

12 December 2020

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

1 reference

12 December 2020

Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX)

1 reference

12 December 2020

Treatment and follow-up of children with cerebrotendinous xanthomatosis

1 reference

12 December 2020

Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients

1 reference

12 December 2020

Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis

1 reference

12 December 2020

Activation of a cryptic splice-site in intron 24 leads to the formation of apolipoprotein B-27.6.

1 reference

12 December 2020

Identifiers

PMC publication ID

1418947

1 reference

6 July 2017

1 reference