Article
The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.
The Journal of clinical endocrinology and metabolism - 1 May 2016
Cenarro Ana, Etxebarria Aitor, de Castro-Orós Isabel, Stef Marianne, Bea Ana M, Palacios Lourdes, Mateo-Gallego Rocío, Benito-Vicente Asier, Ostolaza Helena, Tejedor Teresa, Martín César, Civeira Fernando
Abstract excerpt
CONTEXT: The p.Leu167del mutation in the APOE gene has been associated with hyperlipidemia. OBJECTIVES: Our objective was to determine the frequency of p.Leu167del mutation in APOE gene in subjects with autosomal dominant hypercholesterolemia (ADH) in whom LDLR, APOB, and PCSK9 mutations had been excluded and to identify the mechanisms by which this mutant apo E causes hypercholesterolemia. DESIGN: The APOE gene...
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