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Article

Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.

Atherosclerosis - 1 Mar 2009

Fasano Tommaso, Sun Xi-Ming, Patel Dilipkumar D, Soutar Anne K

Abstract excerpt

Dominant gain-of-function mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) cause familial hypercholesterolaemia (FH) and result in accelerated atherosclerosis and premature coronary heart disease. It is believed that PCSK9 binds to LDL-receptor (LDLR) protein and prevents its recycling to the cell surface; gain-of-function PCSK9 mutants enhance LDLR degradation. Several new variants of PCSK9...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19081568
DOI: 10.1016/j.atherosclerosis.2008.10.027

Genes

LDLR
PCSK9

Variants

Provenance

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Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.PMID 19081568Read ↗

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