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

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...

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Dades bibliogràfiques
Publicat a:Dis Model Mech
Autors principals: Si-Tayeb, Karim, Idriss, Salam, Champon, Benoite, Caillaud, Amandine, Pichelin, Matthieu, Arnaud, Lucie, Lemarchand, Patricia, Le May, Cédric, Zibara, Kazem, Cariou, Bertrand
Format: Artigo
Idioma:Inglês
Publicat: The Company of Biologists 2016
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Resource Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4728336/
https://ncbi.nlm.nih.gov/pubmed/26586530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.022277
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