Characterization of the First PCSK9 Gain of Function Homozygote

• Published in: Journal of the American College of Cardiology Vol. 66; no. 19; pp. 2152 - 2154
• Main Authors: Alves, Ana Catarina, PhD, Etxebarria, Aitor, PhD, Medeiros, Ana Margarida, MSc, Benito-Vicente, Asier, MSc, Thedrez, Aurélie, PhD, Passard, Maxime, BSc, Croyal, Mikaël, BSc, Martin, Cesar, PhD, Lambert, Gilles, PhD, Bourbon, Mafalda, PhD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 10.11.2015; Elsevier Limited; Elsevier
• Subjects: Cardiology; Cardiovascular; Cholesterol; DNA - genetics; DNA Mutational Analysis; Flow cytometry; Genotype & phenotype; Homozygote; Humans; Hyperlipoproteinemia Type II - genetics; Hyperlipoproteinemia Type II - metabolism; Internal Medicine; Life Sciences; Low density lipoprotein; Lymphocytes; Mutation; Patients; Pedigree; Proprotein Convertase 9; Proprotein Convertases - genetics; Proprotein Convertases - metabolism; Serine Endopeptidases - genetics; Serine Endopeptidases - metabolism; Statins

The cellular uptake of fluorescent LDL in those cells paralleled the levels of cell surface LDLR expression in control and the patient's lymphocytes alike (not shown). [...]the LDLR of the proband and of her parents is normally expressed and fully functional, underscoring the causative link tha...