Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R160L
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APOE

NM_000041.4:p.R160L

Associated Papers

Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.

Heidemann BE et al.

Clinical Genetics, 2022

35781703 (PubMed )
Supplement: CGE-102-253-s001.docx

HDL biogenesis, remodeling, and catabolism.

Zannis VI et al.

Handbook of Experimental Pharmacology, 2015

Sequence-specific apolipoprotein A-I effects on lecithin:cholesterol acyltransferase activity.

Dergunov AD

Molecular and Cellular Biochemistry, 2013

Discrete roles of apoA-I and apoE in the biogenesis of HDL species: lessons learned from gene transfer studies in different mouse models.

Zannis VI et al.

Annals of Medicine, 2008

Apolipoprotein A-IFIN (Leu159-->Arg) mutation affects lecithin cholesterol acyltransferase activation and subclass distribution of HDL but not cholesterol efflux from fibroblasts.

Miettinen HE et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 1997

A natural apolipoprotein A-I variant, apoA-I (L141R)Pisa, interferes with the formation of alpha-high density lipoproteins (HDL) but not with the formation of pre beta 1-HDL and influences efflux of cholesterol into plasma.

Miccoli R et al.

Journal of Lipid Research, 1997

Novel APOE Mutation in a Moroccan Subject Suffering from Alzheimer Disease: A Case Study and Exploration of Pathogenic Implication.

Razouqi Y et al.

Alzheimer Disease and Associated Disorders, 0

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