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Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

Rader, Daniel J., Cohen, Jonathan, Hobbs, Helen H.·2003·Journal of Clinical Investigation
DOI 10.1172/jci200318925
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  • The importance of LDL uptake to human cholesterol regulation and cardiovascular disease is highlighted by monogenic causes of familial hypercholesterolemia affecting this pathway, including mutations in LDLR, apolipoprotein B, PCSK9, or LDLRAP1.

    “The importance of LDL uptake to human cholesterol regulation and cardiovascular disease is highlighted by the monogenic causes of familial hypercholesterolemia that affect this pathway[6], including mutations in the genes encoding for LDLR itself, its ligand apolipoprotein B, its negative regulator PCSK9, or its endocytic adapter LDLRAP1.”

    From Genome-scale CRISPR screening for modifiers of cellular LDL uptake (2021) · cites this paper as [6]

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Metadata

Authors
Rader, D. J., Cohen, J., & Hobbs, H. H.
Venue
Journal of Clinical Investigation
Publisher
American Society for Clinical Investigation
Published
2003-06-15
Volume
111
Issue
12
Pages
1795-1803
ISSN
0021-9738
DOI
10.1172/jci200318925
Cited by
450
References
0
Language
en

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