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

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Article

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

Journal of lipid research - 1 Jun 1994

Kim K S, Kubota S, Kuriyama M, Fujiyama J, Björkhem I, Eggertsen G, Seyama Y

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a hereditary sterol storage disease associated with accumulation of cholesterol and cholestanol in various tissues, especially tendons and neural tissues. The biochemical defect that causes CTX is a deficiency of the mitochondrial sterol 27-hydroxylase which oxidizes the side chain of cholesterol in connection with formation of bile acids. Japan has a relatively high...

Topics

Adult
Arteriosclerosis
Base Sequence
Cerebellar Ataxia
Cholestanetriol 26-Monooxygenase
Cholestanol
Cholesterol
Cytochrome P-450 Enzyme System
Dementia
Fibroblasts
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Japan

Molecular Sequence Data

Mutation

Point Mutation

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Steroid Hydroxylases

Source

Open in PubMed

Identifiers

PMID: 7915755

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7915755-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).PMID 7915755Read ↗

A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family.Semantic proximity Read ↗

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

Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.Semantic proximity Read ↗

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.Semantic proximity Read ↗

Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.Semantic proximity Read ↗

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.Semantic proximity Read ↗

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.Semantic proximity Read ↗

A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.Semantic proximity Read ↗

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.Semantic proximity Read ↗

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

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