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Article

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

Journal of lipid research - 1 Jul 1996

Garuti R, Lelli N, Barozzini M, Tiozzo R, Dotti M T, Federico A, Ottomano A M, Croce A, Bertolini S, Calandra S

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage disease associated with the accumulation of cholestanol and cholesterol in various tissues. CTX is caused by a deficiency of sterol-27-hydroxylase, a mitochondrial enzyme that oxidizes the side chain of cholesterol in the pathway leading to the formation of bile acids. In the present study we report two mutations of sterol-27-hydroxylase gene...

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PMID: 8827518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.PMID 8827518Read ↗

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

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Cerebrotendinous xanthomatosis.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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