How does mutant proprotein convertase neural apoptosis-regulated convertase 1 induce autosomal dominant hypercholesterolemia?
Jirholt
Pernilla
P
Adiels
Martin
M
Borén
Jan
J
D019943:Amino Acid Substitution; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000378:metabolism; D002788:Cholesterol Esters / Q000378:metabolism; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000378:metabolism; D008074:Lipoproteins / Q000737:chemistry / Q000378:metabolism; D053419:Lipoproteins, IDL; D008077:Lipoproteins, LDL / Q000737:chemistry / Q000378:metabolism; D008079:Lipoproteins, VLDL / Q000737:chemistry / Q000378:metabolism; D020125:Mutation, Missense; D017354:Point Mutation; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D046988:Proteasome Endopeptidase Complex / Q000378:metabolism; D021381:Protein Transport; D012697:Serine Endopeptidases / Q000737:chemistry / Q000235:genetics*
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D002788:Cholesterol Esters; D008074:Lipoproteins; D053419:Lipoproteins, IDL; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases; D046988:Proteasome Endopeptidase Complex