Article
Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans.
Circulation - 18 Aug 2009
Calabresi Laura, Baldassarre Damiano, Castelnuovo Samuela, Conca Paola, Bocchi Letizia, Candini Chiara, Frigerio Beatrice, Amato Mauro, Sirtori Cesare R, Alessandrini Paola, Arca Marcello, Boscutti Giuliano, Cattin Luigi, Gesualdo Loreto, Sampietro Tiziana, Vaudo Gaetano, Veglia Fabrizio, Calandra Sebastiano, Franceschini Guido
Abstract excerpt
BACKGROUND: Mutations in the LCAT gene cause lecithin:cholesterol acyltransferase (LCAT) deficiency, a very rare metabolic disorder with 2 hypoalphalipoproteinemia syndromes: classic familial LCAT deficiency (Online Mendelian Inheritance in Man No. 245900), characterized by complete lack of enzyme activity, and fish-eye disease (Online Mendelian Inheritance in Man No. 136120), with a partially defective enzyme....
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