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

• Autors principals: Karim Si-Tayeb (Autor), Salam Idriss (Autor), Benoite Champon (Autor), Amandine Caillaud (Autor), Matthieu Pichelin (Autor), Lucie Arnaud (Autor), Patricia Lemarchand (Autor), Cédric Le May (Autor), Kazem Zibara (Autor), Bertrand Cariou (Autor)
• Format: Llibre
• Publicat: The Company of Biologists, 2016-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...