Publications:

Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Protein Science : A Publication Of The Protein Society

Garvie, Colin W CW; Fraley, Cara V CV; Elowe, Nadine H NH; Culyba, Elizabeth K EK; Lemke, Christopher T CT; Hubbard, Brian K BK; Kaushik, Virendar K VK; Daniels, Douglas S DS

Publication Date: 2016-11

Variant appearance in text: PCSK9: Q152N

PubMed Link: 27534510

Variant Present in the following documents:

• Main text

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Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry

Benjannet, Suzanne S; Hamelin, Josée J; Chrétien, Michel M; Seidah, Nabil G NG

Publication Date: 2012-09-28

Variant appearance in text: PCSK9: Q152N

PubMed Link: 22875854

Variant Present in the following documents:

• Main text

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