Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia

• Main Authors: Karim Si-Tayeb (Author), Salam Idriss (Author), Benoite Champon (Author), Amandine Caillaud (Author), Matthieu Pichelin (Author), Lucie Arnaud (Author), Patricia Lemarchand (Author), Cédric Le May (Author), Kazem Zibara (Author), Bertrand Cariou (Author)
• Format: Book
• Published: The Company of Biologists, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Proprotein convertase subtilisin kexin type 9 (PCSK9) is a critical modulator of cholesterol homeostasis. Whereas PCSK9 gain-of-function (GOF) mutations are associated with autosomal dominant hypercholesterolemia (ADH) and premature atherosclerosis, PCSK9 loss-of-function (LOF) mutations have a card...