Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.R173C
Back to variants list

APOA1

NM_000039.3:p.R173C

Associated Papers

Natural variants of apolipoprotein A1 L99P and R173P exhibited a high degree of amyloid fibril formation: Implications for high-density lipoprotein functions and disease pathogenesis.

Bhale AS et al.

International Journal of Biological Macromolecules, 2026

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S2

Therapeutic effect of human ApoA-I-Milano variant in aged transgenic mouse model of Alzheimer's disease.

Solé M et al.

British Journal of Pharmacology, 2023

Delineating the impact of pathogenic mutations on the conformational dynamics of HDL's vital protein ApoA1: a combined computational and molecular dynamic simulation approach.

Bhale AS et al.

Journal of Biomolecular Structure & Dynamics, 2023

Using adenovirus-mediated gene transfer to study the effect of myeloperoxidase on plasma lipid levels, HDL structure and functionality in mice expressing human apoA-I forms.

Dalakoura-Karagkouni K et al.

Biochemical and Biophysical Research Communications, 2022

Structure dynamics of ApoA-I amyloidogenic variants in small HDL increase their ability to mediate cholesterol efflux.

Nilsson O et al.

Journal of Lipid Research, 2021

Probing the Structure-Function relationship and amyloidogenic propensities in natural variants of apolipoprotein A-I.

Ma'arfi F et al.

Biochemistry and Biophysics Reports, 2020

Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.

Zanoni P et al.

Current Opinion in Lipidology, 2020

Arginine 123 of apolipoprotein A-I is essential for lecithin:cholesterol acyltransferase activity.

Gorshkova IN et al.

Journal of Lipid Research, 2018

Antioxidative activity of high-density lipoprotein (HDL): Mechanistic insights into potential clinical benefit.

Brites F et al.

Bba Clinical, 2017

Intravenous treatment with human recombinant ApoA-I Milano reduces beta amyloid cerebral deposition in the APP23-transgenic mouse model of Alzheimer's disease.

Fernández-de Retana S et al.

Neurobiology of Aging, 2017

Synchrotron radiation circular dichroism spectroscopy reveals structural divergences in HDL-bound apoA-I variants.

Giudice RD et al.

Scientific Reports, 2017

Novel therapies for severe dyslipidemia originating from human genetics.

Gaudet D

Current Opinion in Lipidology, 2016

Update on the molecular biology of dyslipidemias.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

ApoA-I Milano stimulates lipolysis in adipose cells independently of cAMP/PKA activation.

Lindahl M et al.

Journal of Lipid Research, 2015

Lipid-free Apolipoprotein A-I Structure: Insights into HDL Formation and Atherosclerosis Development.

Mei X et al.

Archives of Medical Research, 2015

Vascular alterations in apolipoprotein A-I amyloidosis (Leu75Pro). A case-control study.

Muiesan ML et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2015

Structural and Functional Analysis of the ApolipoproteinA-I A164S Variant.

Dalla-Riva J et al.

Plos One, 2015

Amyloidogenic mutations in human apolipoprotein A-I are not necessarily destabilizing - a common mechanism of apolipoprotein A-I misfolding in familial amyloidosis and atherosclerosis.

Das M et al.

The Febs Journal, 2014

Single injections of apoA-I acutely improve in vivo glucose tolerance in insulin-resistant mice.

Stenkula KG et al.

Diabetologia, 2014

Secondary structure changes in ApoA-I Milano (R173C) are not accompanied by a decrease in protein stability or solubility.

Petrlova J et al.

Plos One, 2014

Structural basis for distinct functions of the naturally occurring Cys mutants of human apolipoprotein A-I.

Gursky O et al.

Journal of Lipid Research, 2013

Mutation mapping of apolipoprotein A-I structure assisted with the putative cholesterol recognition regions.

Dergunov AD

Biochimica Et Biophysica Acta, 2013

Apolipoprotein A-I Helsinki promotes intracellular acyl-CoA cholesterol acyltransferase (ACAT) protein accumulation.

Toledo JD et al.

Molecular and Cellular Biochemistry, 2013

Effects of the Iowa and Milano mutations on apolipoprotein A-I structure and dynamics determined by hydrogen exchange and mass spectrometry.

Chetty PS et al.

Biochemistry, 2012

Genetics of cholesterol efflux.

Iatan I et al.

Current Atherosclerosis Reports, 2012

Crystal structure of C-terminal truncated apolipoprotein A-I reveals the assembly of high density lipoprotein (HDL) by dimerization.

Mei X et al.

The Journal of Biological Chemistry, 2011

Mutation in APOA1 predicts increased risk of ischaemic heart disease and total mortality without low HDL cholesterol levels.

Haase CL et al.

Journal of Internal Medicine, 2011

Influence of N-terminal helix bundle stability on the lipid-binding properties of human apolipoprotein A-I.

Tanaka M et al.

Biochimica Et Biophysica Acta, 2011

Structural and dynamic features of apolipoprotein A-I cysteine mutants, Milano and Paris, in synthetic HDL.

Rocco AG et al.

Journal of Molecular Graphics & Modelling, 2010

Clinical Implications of Lipid Genetics for Cardiovascular Disease.

Strong A et al.

Current Cardiovascular Risk Reports, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Conformation of dimeric apolipoprotein A-I milano on recombinant lipoprotein particles.

Bhat S et al.

Biochemistry, 2010

Disruption of the C-terminal helix by single amino acid deletion is directly responsible for impaired cholesterol efflux ability of apolipoprotein A-I Nichinan.

Kono M et al.

Journal of Lipid Research, 2010

Macrophage reverse cholesterol transport in mice expressing ApoA-I Milano.

Alexander ET et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2009

Structural and functional consequences of the Milano mutation (R173C) in human apolipoprotein A-I.

Alexander ET et al.

Journal of Lipid Research, 2009

Wild-type apo A-I and apo A-I(Milano) gene transfer reduce native and transplant arteriosclerosis to a similar extent.

Feng Y et al.

Journal of Molecular Medicine (berlin, Germany), 2009

Wild-type ApoA-I and the Milano variant have similar abilities to stimulate cellular lipid mobilization and efflux.

Weibel GL et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2007

Structure, function and amyloidogenic propensity of apolipoprotein A-I.

Obici L et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2006

Differential diagnosis of familial high density lipoprotein deficiency syndromes.

von Eckardstein A

Atherosclerosis, 2006

ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease.

Oram JF et al.

Physiological Reviews, 2005

Gain-of-function mutations and therapeutic implications: lipoprotein lipase S447X to the rescue.

Rader DJ

Arteriosclerosis, Thrombosis, and Vascular Biology, 2005

Cysteine mutants of human apolipoprotein A-I: a study of secondary structural and functional properties.

Zhu X et al.

Journal of Lipid Research, 2005

A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease.

Hovingh GK et al.

Journal of the American College of Cardiology, 2004

Quality control in the apoA-I secretory pathway: deletion of apoA-I helix 6 leads to the formation of cytosolic phospholipid inclusions.

Bhat S et al.

Journal of Lipid Research, 2004

Failure to generate atheroprotective apolipoprotein AI phenotypes using synthetic RNA/DNA oligonucleotides (chimeraplasts).

Manzano A et al.

The Journal of Gene Medicine, 2003

Targeted replacement of mouse apolipoprotein A-I with human ApoA-I or the mutant ApoA-IMilano. Evidence of APOA-IM impaired hepatic secretion.

Parolini C et al.

The Journal of Biological Chemistry, 2003

Apolipoprotein A-I(Milano) and apolipoprotein A-I(Paris) exhibit an antioxidant activity distinct from that of wild-type apolipoprotein A-I.

Bielicki JK et al.

Biochemistry, 2002

Cysteine substitutions in apolipoprotein A-I primary structure modulate paraoxonase activity.

Oda MN et al.

Biochemistry, 2001

1–50 of 58 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."