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Article

Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo.

Circulation research - 29 Oct 2004

Harada-Shiba Mariko, Takagi Atsuko, Marutsuka Kousuke, Moriguchi Sayaka, Yagyu Hiroaki, Ishibashi Shun, Asada Yujiro, Yokoyama Shinji

Abstract excerpt

We previously characterized the patients with autosomal recessive hypercholesterolemia (ARH) as having severe hypercholesterolemia and retarded plasma low-density lipoprotein (LDL) clearance despite normal LDL receptor (LDLR) function in their cultured fibroblasts, and we identified a mutation in the ARH locus in these patients. ARH protein is an adaptor protein of the LDL and reportedly modulates its...

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Source

Identifiers

PMID: 15472122
DOI: 10.1161/01.RES.0000146946.78540.46

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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