Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.L141R
Back to variants list

LCAT

NM_000229.2:p.L141R

Associated Papers

[Inborn errors of high-density lipoprotein metabolism].

von Eckardstein A

Der Internist, 2019

Role of apolipoproteins, ABCA1 and LCAT in the biogenesis of normal and aberrant high density lipoproteins.

Zannis VI et al.

Journal of Biomedical Research, 2017

Natural human apoA-I mutations L141RPisa and L159RFIN alter HDL structure and functionality and promote atherosclerosis development in mice.

Tiniakou I et al.

Atherosclerosis, 2015

The Effect of Natural LCAT Mutations on the Biogenesis of HDL.

Fotakis P et al.

Biochemistry, 2015

Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency.

Santos RD et al.

Journal of Lipid Research, 2008

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

LCAT can rescue the abnormal phenotype produced by the natural ApoA-I mutations (Leu141Arg)Pisa and (Leu159Arg)FIN.

Koukos G et al.

Biochemistry, 2007

Cross-linking and lipid efflux properties of apoA-I mutants suggest direct association between apoA-I helices and ABCA1.

Chroni A et al.

Biochemistry, 2004

Structural and functional properties of human plasma high density-sized lipoprotein containing only apoE particles.

Krimbou L et al.

Journal of Lipid Research, 2003

Lipid-free structure and stability of apolipoprotein A-I: probing the central region by mutation.

Gorshkova IN et al.

Biochemistry, 2002

Recombinant proapoA-I(Lys107del) shows impaired lipid binding associated with reduced binding to plasma high density lipoprotein.

Huang W et al.

Atherosclerosis, 2001

Genetic determinants of high density lipoprotein levels.

Funke H

Current Opinion in Lipidology, 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

High density lipoproteins, reverse transport of cholesterol, and coronary artery disease. Insights from mutations.

Assmann G et al.

Circulation, 1993

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."