Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L202P
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APOA1

NM_000039.3:p.L202P

Associated Papers

Library screening identifies commercial drugs as potential structure correctors of abnormal apolipoprotein A-I.

Gkolfinopoulou C et al.

Journal of Lipid Research, 2024

Structure-function analysis of naturally occurring apolipoprotein A-I L144R, A164S and L178P mutants provides insight on their role on HDL levels and cardiovascular risk.

Gkolfinopoulou C et al.

Cellular and Molecular Life Sciences : Cmls, 2021

HDL and atherosclerosis: Insights from inherited HDL disorders.

Calabresi L et al.

Biochimica Et Biophysica Acta, 2015

Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.

Singaraja RR et al.

Journal of Lipid Research, 2014

ApoA-I mutations, L202P and K131del, in HDL from heterozygotes with low HDL-C.

Ljunggren S et al.

Proteomics. Clinical Applications, 2014

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

Dergunov AD

Biochimica Et Biophysica Acta, 2013

In vivo tissue cholesterol efflux is reduced in carriers of a mutation in APOA1.

Holleboom AG et al.

Journal of Lipid Research, 2013

Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.

Tietjen I et al.

Biochimica Et Biophysica Acta, 2012

Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders.

Daniil G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism.

Karuna R et al.

Atherosclerosis, 2011

Myocardial infarction in a 36-year-old man with combined ABCA1 and APOA-1 deficiency.

van Capelleveen JC et al.

Journal of Clinical Lipidology, 0

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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."