Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.R173P
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APOA1

NM_000039.3:p.R173P

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

Structural variability of apolipoprotein A-I amyloid fibrils across organs, mutations, and clinical presentations, revealed by cryo-EM.

An Nguyen B et al.

Biorxiv : the Preprint Server for Biology, 2025

An unusual phenotype of hereditary AApoAI amyloidosis caused by a novel Asp20Tyr substitution is linked to pH-dependent aggregation of apolipoprotein A-I.

Prokaeva T et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

Interactions of variants of human apolipoprotein A-I with biopolymeric model matrices. Effect of collagen and heparin.

Rosú SA et al.

Archives of Biochemistry and Biophysics, 2023

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

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

The experience of hereditary apolipoprotein A-I amyloidosis at the UK National Amyloidosis Centre.

Cohen OC et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022

Evolutionary and structural constraints influencing apolipoprotein A-I amyloid behavior.

Gisonno RA et al.

Proteins, 2022

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

Apolipoprotein A-1-related amyloidosis 2 case reports and review of the literature.

Lu C et al.

Medicine, 2017

Apolipoprotein A-I: the dual face of a protein.

Arciello A et al.

Febs Letters, 2016

Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis.

Zhen DB et al.

Clinical Genetics, 2015

Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.

Gregorini G et al.

Kidney International, 2015

Amyloidogenic propensity of a natural variant of human apolipoprotein A-I: stability and interaction with ligands.

Rosú SA et al.

Plos One, 2015

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

Dalla-Riva J et al.

Plos One, 2015

Utility and limitations of 3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in systemic amyloidosis.

Hutt DF et al.

European Heart Journal. Cardiovascular Imaging, 2014

The crystal structure of the C-terminal truncated apolipoprotein A-I sheds new light on amyloid formation by the N-terminal fragment.

Gursky O et al.

Biochemistry, 2012

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

Rowczenio D et al.

The American Journal of Pathology, 2011

Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis.

Hazenberg AJ et al.

The Laryngoscope, 2009

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

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis.

Gregorini G et al.

Journal of the American Society of Nephrology : Jasn, 2005

Ostertag revisited: the inherited systemic amyloidoses without neuropathy.

Benson MD

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005

A study of apolipoproteins E and A-I in cutaneous amyloids.

Chang YT et al.

The British Journal of Dermatology, 2001

Amyloid fibrils derived from the apolipoprotein A1 Leu174Ser variant contain elements of ordered helical structure.

Mangione P et al.

Protein Science : a Publication of the Protein Society, 2001

Diagnosis and treatment of high density lipoprotein deficiency.

Schaefer EJ et al.

Progress in Cardiovascular Diseases, 0

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