Familial hypercholesterolemia class II low-density lipoprotein receptor response to statin treatment

• Autori principali: Linda Omer (Autore), Lubna Hindi (Autore), Giuseppe Militello (Autore), Katlin B. Stivers (Autore), Kenneth C. Tien (Autore), Nolan L. Boyd (Autore)
• Natura: Libro
• Pubblicazione: The Company of Biologists, 2020-04-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Low-density lipoprotein (LDL) receptor (LDLR) mutations are the primary cause of familial hypercholesterolemia (FH). Class II LDLR mutations result in a misfolded LDLR retained in the endoplasmic reticulum (ER). We have developed a model of FH class II and CRISPR-corrected induced pluripotent stem c...