Familial Hypercholesterolemia: The Lipids or the Genes?

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

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

Genetic Disorder, Genetics, Pathology +4

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

Metabolic Syndrome, Lipid Disorder, Genetics +9

The LDL Receptor Gene: A Mosaic of Exons Shared with Different Proteins

Thomas C. Südhof, Joseph L. Goldstein, Michael S. Brown et al. · Science · 1985 · 852 citations · Full text

Genetics, Immunology, Molecular Biology +19

LXR Regulates Cholesterol Uptake Through Idol-Dependent Ubiquitination of the LDL Receptor

Noam Zelcer, Cynthia Hong, Rima Boyadjian et al. · Science · 2009 · 816 citations · Full text