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Article

Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency.

Biologicals : journal of the International Association of Biological Standardization - 1 Nov 2013

Simonelli Sara, Tinti Cristina, Salvini Laura, Tinti Laura, Ossoli Alice, Vitali Cecilia, Sousa Vitor, Orsini Gaetano, Nolli Maria Luisa, Franceschini Guido, Calabresi Laura

Abstract excerpt

Lecithin:cholesterol acyltransferase (LCAT) is the enzyme responsible for cholesterol esterification in plasma. Mutations in the LCAT gene leads to two rare disorders, familial LCAT deficiency and fish-eye disease, both characterized by severe hypoalphalipoproteinemia associated with several lipoprotein abnormalities. No specific treatment is presently available for genetic LCAT deficiency. In the present study,...

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Identifiers

PMID: 24140107
DOI: 10.1016/j.biologicals.2013.09.007

Genes

LCAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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