Article
[Monogenic hypercholesterolemias: new genes, new drug targets].
Genetika - 1 Oct 2008
Mandel'shtam M Iu, Vasil'ev V B
Abstract excerpt
This review is focused on recent data on structure and functions of PCSK9 proprotein convertase, a newly identified participant in cholesterol metabolism in mammalian organisms, including humans. Proprotein convertase acts as a molecular chaperone for the low density lipoprotein (LDL) receptor, targeting it to the lysosomal degradation pathway. Various mutations increasing the PCSK9 affinity toward the LDL...
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