(Q24338622)

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Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function

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Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function (English)

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abetalipoproteinemia

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Microsomal triglyceride transfer protein

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GOA release 2020-03-11

phospholipid transfer activity

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GOA release 2020-03-11

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based on heuristic

inferred from title

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Jahangir Iqbal

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Jahangir

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Iqbal

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15 June 2020

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Meghan T Walsh

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Meghan T

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Walsh

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15 June 2020

Joby Josekutty

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Joby

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Josekutty

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15 June 2020

James Soh

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James

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Soh

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15 June 2020

Enza Di Leo

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Enza

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Di Leo

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15 June 2020

Eda Özaydin

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Eda

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Özaydin

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15 June 2020

Mehmet Gündüz

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Mehmet

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Gündüz

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15 June 2020

Patrizia Tarugi

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Patrizia

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Tarugi

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15 June 2020

M Mahmood Hussain

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M Mahmood

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Hussain

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15 June 2020

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publication date

October 2015

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Circulation: Cardiovascular Genetics

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15 June 2020

8

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15 June 2020

677-687

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15 June 2020

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26224785%20AND%20SRC:MED&resulttype=core&format=json

15 June 2020

Novel missense MTTP gene mutations causing abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

An integrated map of genetic variation from 1,092 human genomes

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19 March 2017

Multiple functions of microsomal triglyceride transfer protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

The PANTHER database of protein families, subfamilies, functions and pathways

1 reference

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19 March 2017

dbSNP: the NCBI database of genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Microsomal triglyceride transfer protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Microsomal triacylglycerol transfer protein is required for lumenal accretion of triacylglycerol not associated with ApoB, as well as for ApoB lipidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

Demonstration of a physical interaction between microsomal triglyceride transfer protein and apolipoprotein B during the assembly of ApoB-containing lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

19 March 2017

MicroRNA-30c reduces hyperlipidemia and atherosclerosis in mice by decreasing lipid synthesis and lipoprotein secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

10 May 2017

Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

Microsomal transfer protein inhibition in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

SIFT web server: predicting effects of amino acid substitutions on proteins

1 reference

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27 September 2017

Phospholipid transfer activity of microsomal triglyceride transfer protein produces apolipoprotein B and reduces hepatosteatosis while maintaining low plasma lipids in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

Reconstituting initial events during the assembly of apolipoprotein B-containing lipoproteins in a cell-free system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

Acquisition of triacylglycerol transfer activity by microsomal triglyceride transfer protein during evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

The N-terminal 1000 residues of apolipoprotein B associate with microsomal triglyceride transfer protein to create a lipid transfer pocket required for lipoprotein assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

The role of the microsomal triglygeride transfer protein in abetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

Interactions between microsomal triglyceride transfer protein and apolipoprotein B within the endoplasmic reticulum in a heterologous expression system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

27 September 2017

The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

30 May 2018

Protein disulfide isomerase is a component of the microsomal triglyceride transfer protein complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

30 May 2018

Severe hypertriglyceridemia with pancreatitis: thirteen years' treatment with lomitapide.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

29 November 2018

Pharmacological characterization of diethyl-2-({3-dimethylcarbamoyl-4-[(4'-trifluoromethylbiphenyl-2-carbonyl)amino]phenyl}acetyloxymethyl)-2-phenylmalonate (JTT-130), an intestine-specific inhibitor of microsomal triglyceride transfer protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

29 November 2018

Phospholipid transfer activity of microsomal triacylglycerol transfer protein is sufficient for the assembly and secretion of apolipoprotein B lipoproteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

29 November 2018

A simple, rapid, and sensitive fluorescence assay for microsomal triglyceride transfer protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

29 November 2018

A Drosophila microsomal triglyceride transfer protein homolog promotes the assembly and secretion of human apolipoprotein B. Implications for human and insect transport and metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4618089

29 November 2018

Transfer of cholesteryl esters and phospholipids as well as net deposition by microsomal triglyceride transfer protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of recombinant human apoB-48-containing lipoproteins in rat hepatoma McA-RH7777 cells transfected with apoB-48 cDNA. Overexpression of apoB-48 decreases synthesis of endogenous apoB-100

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsomal triglyceride transfer protein binding and lipid transfer activities are independent of each other, but both are required for secretion of apolipoprotein B lipoproteins from liver cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein disulfide isomerase appears necessary to maintain the catalytically active structure of the microsomal triglyceride transfer protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amino acids 430-570 in apolipoprotein B are critical for its binding to microsomal triglyceride transfer protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-terminal domain of apolipoprotein B has structural homology to lipovitellin and microsomal triglyceride transfer protein: a "lipid pocket" model for self-assembly of apob-containing lipoprotein particles

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased secretion of ApoB follows inhibition of ApoB-MTP binding by a novel antagonist

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Ile128Thr polymorphism influences stability and ligand binding properties of the microsomal triglyceride transfer protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/26224785

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCGENETICS.115.001106

1 reference

Europe PubMed Central

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15 June 2020

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1 reference

Europe PubMed Central

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15 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26224785%20AND%20SRC:MED&resulttype=core&format=json

15 June 2020

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