Article
Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.
Atherosclerosis - 1 Mar 2009
Cameron Jamie, Holla Øystein L, Laerdahl Jon K, Kulseth Mari Ann, Berge Knut Erik, Leren Trond P
Abstract excerpt
OBJECTIVE: The normal function of proprotein convertase subtilisin/kexin type 9 (PCSK9) is to mediate degradation of the low density lipoprotein (LDL) receptors. However, the exact mechanism for this function remains to be determined. Characterization of how the naturally occurring mutations in the PCSK9 gene affect the function of PCSK9, may provide important insight into the mechanism by which PCSK9 degrades...
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