How does mutant proprotein convertase neural apoptosis-regulated convertase 1 induce autosomal dominant hypercholesterolemia?

Arterioscler Thromb Vasc Biol. 2004 Aug;24(8):1334-6. doi: 10.1161/01.ATV.0000133682.97348.ff.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • Amino Acid Substitution
  • Apolipoprotein B-100
  • Apolipoproteins B / metabolism
  • Cholesterol Esters / metabolism
  • Genes, Dominant
  • Genetic Heterogeneity
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Hyperlipoproteinemia Type II / metabolism
  • Lipoproteins / chemistry
  • Lipoproteins / metabolism
  • Lipoproteins, IDL
  • Lipoproteins, LDL / chemistry
  • Lipoproteins, LDL / metabolism
  • Lipoproteins, VLDL / chemistry
  • Lipoproteins, VLDL / metabolism
  • Mutation, Missense
  • Point Mutation
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Proteasome Endopeptidase Complex / metabolism
  • Protein Transport
  • Serine Endopeptidases / chemistry
  • Serine Endopeptidases / genetics*

Substances

  • Apolipoprotein B-100
  • Apolipoproteins B
  • Cholesterol Esters
  • Lipoproteins
  • Lipoproteins, IDL
  • Lipoproteins, LDL
  • Lipoproteins, VLDL
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases
  • Proteasome Endopeptidase Complex