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Article

In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.

The Journal of biological chemistry - 21 Apr 1995

Klein H G, Duverger N, Albers J J, Marcovina S, Brewer H B, Santamarina-Fojo S

Abstract excerpt

Classic LCAT deficiency (CLD) and fish eye disease (FED) are two clinically distinct syndromes, associated with defects in the lecithin-cholesterol acyltransferase (LCAT) gene resulting in total (CLD) or partial (FED) enzyme deficiency. In order to investigate the underlying molecular mechanisms...

Topics

Blotting, Northern
Cholesterol Esters
Humans
Mutation
Phosphatidylcholine-Sterol O-Acyltransferase
Protein Structure, Secondary
RNA, Messenger

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7721870
DOI: 10.1074/jbc.270.16.9443

Genes

LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7721870-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.PMID 7721870Read ↗

Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.Semantic proximity Read ↗

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.Semantic proximity Read ↗

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.Semantic proximity Read ↗

Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).Semantic proximity Read ↗

Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease.Semantic proximity Read ↗

Lecithin: cholesterol acyltransferase deficiency and fish-eye diseaseSemantic proximity Read ↗

A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.Semantic proximity Read ↗

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Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency.Semantic proximity Read ↗

Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.Semantic proximity Read ↗

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