Article
Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture.
Clinical chemistry - 1 Oct 2011
Mayne Janice, Dewpura Thilina, Raymond Angela, Bernier Lise, Cousins Marion, Ooi Teik Chye, Davignon Jean, Seidah Nabil G, Mbikay Majambu, Chrétien Michel
Abstract excerpt
BACKGROUND: PCSK9 (proprotein convertase subtilisin/kexin type 9) is a polymorphic gene whose protein product regulates plasma LDL cholesterol (LDLC) concentrations by shuttling liver LDL receptors (LDLRs) for degradation. PCSK9 variants that cause a gain or loss of PCSK9 function are associated with hyper- or hypocholesterolemia, which increases or reduces the risk of cardiovascular disease, respectively. We...
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