Degradation of LDLR protein mediated by ‘gain of function’ PCSK9 mutants in normal and ARH cells

Sequence Variations in <i>PCSK9,</i> Low LDL, and Protection against Coronary Heart Disease

Jonathan C. Cohen, Eric Boerwinkle, Thomas H. Mosley et al. · New England Journal of Medicine · 2006 · 3.2K citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Marianne Abifadel, Mathilde Varret, Jean‐Pierre Rabès et al. · Nature Genetics · 2003 · 3K citations

Life Sciences, Genetics, Molecular Genetics +10

Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

Jay D. Horton, Nila Shah, Janet A. Warrington et al. · Proceedings of the National Academy of Sciences · 2003 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

Jonathan C. Cohen, Alexander Pertsemlidis, Ingrid K. Kotowski et al. · Nature Genetics · 2005 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +13

The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): Liver regeneration and neuronal differentiation

Nabil G. Seidah, Suzanne Benjannet, L. Alexandra Wickham et al. · Proceedings of the National Academy of Sciences · 2003 · 1.2K citations · Full text

Life Sciences, Biochemistry, Apoptosis +14