Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity (Q36353492)

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English	Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity	scientific article

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scholarly article

1 reference

Europe PubMed Central

13 August 2017

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity (English)

1 reference

Europe PubMed Central

13 August 2017

hypercholesterolemia

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José Ángel Fernández-Higuero

1

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8 June 2020

Ana Catarina Alves

4

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8 June 2020

Mafalda Bourbon

7

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8 June 2020

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8 June 2020

author name string

A Etxebarria

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8 June 2020

A Benito-Vicente

3

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8 June 2020

J L R Arrondo

5

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8 June 2020

H Ostolaza

6

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8 June 2020

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publication date

8 December 2015

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13 August 2017

Scientific Reports

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8 June 2020

5

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8 June 2020

18184

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8 June 2020

copyright license

Creative Commons Attribution 4.0 International

1 December 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1038/srep18184

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Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

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30 September 2017

Human LDL structural diversity studied by IR spectroscopy

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30 September 2017

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

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30 September 2017

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

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30 September 2017

Mechanisms of disease: genetic causes of familial hypercholesterolemia

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30 September 2017

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

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30 September 2017

Atherogenic lipoprotein particles in atherosclerosis

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30 September 2017

Protein measurement with the Folin phenol reagent

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30 September 2017

Structure of apolipoprotein B-100 in low density lipoproteins.

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30 September 2017

The apolipoprotein B R3531C mutation. Characteristics of 24 subjects from 9 kindreds.

1 reference

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30 September 2017

Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.

1 reference

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30 September 2017

Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor

1 reference

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30 September 2017

Apolipoprotein B and low-density lipoprotein structure: implications for biosynthesis of triglyceride-rich lipoproteins

1 reference

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30 September 2017

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

1 reference

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30 September 2017

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

1 reference

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30 September 2017

Rare and common mutations in hyperlipidemia and atherosclerosis. With special reference to familial defective apolipoprotein B-100.

1 reference

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30 September 2017

Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4672294

30 September 2017

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4672294

30 September 2017

Reduced beta-strand content in apoprotein B-100 in smaller and denser low-density lipoprotein subclasses as probed by Fourier-transform infrared spectroscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4672294

29 June 2018

Screening for familial defective apolipoprotein B-100 with improved U937 monocyte proliferation assay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4672294

29 June 2018

Increase in the density of lighter low density lipoprotein by hepatic triglyceride lipase.

1 reference

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29 June 2018

Modification of low density lipoprotein by lipoprotein lipase or hepatic lipase induces enhanced uptake and cholesterol accumulation in cells

1 reference

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29 June 2018

Structural domains of human apolipoprotein B-100. Differential accessibility to limited proteolysis of B-100 in low density and very low density lipoproteins.

1 reference

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29 June 2018

The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4672294

29 June 2018

Deletion of a single helix from the transmembrane domain causes large changes in membrane insertion properties and secondary structure of the bacterial conjugation protein TrwB.

1 reference

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22 September 2018

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

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22 September 2018

Modular structure of solubilized human apolipoprotein B-100. Low resolution model revealed by small angle neutron scattering.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4672294

22 September 2018

apoB-100 has a pentapartite structure composed of three amphipathic alpha-helical domains alternating with two amphipathic beta-strand domains. Detection by the computer program LOCATE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4672294

22 September 2018

Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia

1 reference

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22 September 2018

Symmetry of the Surface, and Structure of the Central Core of Human LDL Particles, Analyzed by X-Ray Small Angle Scattering

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22 September 2018

Sequence, structure, receptor-binding domains and internal repeats of human apolipoprotein B-100

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https://api.crossref.org/works/10.1038%2FSREP18184

21 January 2018

Surface-core relationships in human low density lipoprotein as studied by infrared spectroscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

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Apolipoprotein B-100 conformation and particle surface charge in human LDL subspecies: implication for LDL receptor interaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

13C NMR evidence that substitution of glutamine for arginine 3500 in familial defective apolipoprotein B-100 disrupts the conformation of the receptor-binding domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined effects of lipid transfers and lipolysis on gradient gel patterns of human plasma LDL

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and conformational analysis of lipid-associating peptides of apolipoprotein B-100 produced by trypsinolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary sequence mapping of human apolipoprotein B-100 epitopes. Comparisons of trypsin accessibility and immunoreactivity and implication for apoB conformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Secondary structure of the particle associating domain of apolipoprotein B-100 in low-density lipoprotein by attenuated total reflection infrared spectroscopy

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Theoretical model of human apolipoprotein B100 tertiary structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reversible modification of human plasma low density lipoproteins toward triglyceride-rich precursors. A mechanism for losing excess cholesterol esters

1 reference

https://pubmed.ncbi.nlm.nih.gov/26643808

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1038/SREP18184

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Europe PubMed Central

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8 June 2020

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8 June 2020

1 reference

Europe PubMed Central

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8 June 2020

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