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A new mouse mutant for the LDL receptor identified using ENU mutagenesis

Svenson, Karen L., Ahituv, Nadav, Durgin, Rebecca S., Savage, Holly, Magnani, Phyllis A., Foreman, Oded, Paigen, Beverly, Peters, Luanne L.·2008·Journal of Lipid Research

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Crossref · 10.1194/jlr.m800303-jlr200

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  • The WHC modification was found to trap LDLR in the ER, preventing glycosylation in the Golgi apparatus and resulting in protein degradation rather than trafficking to the cell surface.

    “This modification was found to trap LDLR in the ER, preventing glycosylation in the Golgi apparatus, and resulting in protein degradation rather than trafficking to the cell surface89–91.”

    From Pathways and Molecular Mechanisms Governing LDL Receptor Regulation (2025) · cites this paper as [89]

    The Discussion (p. 2459) predicts that the WHC mutation prevents LDLR transport from the endoplasmic reticulum to the Golgi and cell surface; it does not report this as an observed finding. The passage does not establish that Golgi glycosylation is prevented or that the protein is degraded. (LLM, conf=0.88)

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  • ENU mutagenesis generated the Wicked High Cholesterol (WHC) mouse model, which developed hypercholesterolemia at levels found in LDLR knockout animals.

    “To model these Class II mutations ENU mutagenesis generated a mouse model, the Wicked High Cholesterol (WHC) mouse89, that developed hypercholesterolemia at levels found in LDLR knockout animals.”

    From Pathways and Molecular Mechanisms Governing LDL Receptor Regulation (2025) · cites this paper as [89]

    The Abstract identifies WHC as an LDL receptor mutation found through ENU mutagenesis. In “Comparison of WHC homozygotes to Ldlr KO strain” (page not provided), the paper reports similar cholesterol levels on chow, but significantly higher total cholesterol in knockout mice after an atherogenic diet. The unqualified claim that WHC reached knockout cholesterol levels omits that diet-dependent difference. (LLM, conf=0.86)

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Research works printed but not linked: 32

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Metadata

Authors
Svenson, K. L., Ahituv, N., Durgin, R. S., Savage, H., Magnani, P. A., Foreman, O., Paigen, B., & Peters, L. L.
Venue
Journal of Lipid Research
Publisher
Elsevier BV
Published
2008-11
Volume
49
Issue
11
Pages
2452-2462
ISSN
0022-2275
Cited by
15
References
0
Language
en

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