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Article

T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease.

Clinica chimica acta; international journal of clinical chemistry - 1 May 2004

Miida Takashi, Zhang Bo, Obayashi Konen, Seino Utako, Zhu Ying, Ito Takako, Nakamura Yuichi, Okada Masahiko, Saku Keijiro

Abstract excerpt

BACKGROUND: Lecithin-cholesterol acyltransferase (LCAT) esterifies free cholesterol (FC) in plasma and plays a crucial role in the maturation of prebeta1-HDL (lipid-poor HDL) into alpha-migrating HDL (spherical HDL). Natural mutations of LCAT gene cause familial LCAT deficiency (FLD) or fish-eye disease (FED). The relationship between mutations and their phenotypes gives important clues to the functions of...

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Identifiers

PMID: 15115696
DOI: 10.1016/j.cccn.2004.01.014

Genes

LCAT

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease.PMID 15115696Read ↗

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 ↗

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

Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.Semantic proximity Read ↗

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

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

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Current Status of Familial LCAT Deficiency in Japan.Semantic proximity Read ↗

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.Semantic proximity Read ↗

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 ↗

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The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.Semantic proximity Read ↗

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