Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B (Q33673712)

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English	Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B	scientific article

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15 January 2020

Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B (English)

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Christopher James Mcknight

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Patrizia Tarugi

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Shumei Zhong

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15 January 2020

Antonia Lucia Magnolo

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15 January 2020

Meenakshi Sundaram

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15 January 2020

Hu Zhou

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15 January 2020

Erik F Yao

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15 January 2020

Enza Di Leo

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Paola Loria

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15 January 2020

Shuai Wang

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15 January 2020

Michelle Bamji-Mirza

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15 January 2020

Lisheng Wang

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15 January 2020

Yuwei Wang

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15 January 2020

Zemin Yao

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23 December 2009

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15 January 2020

Journal of Biological Chemistry

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15 January 2020

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15 January 2020

6453-6464

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15 January 2020

Sterol-mediated regulation of human lipin 1 gene expression in hepatoblastoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Apolipoprotein B100 acts as a molecular link between lipid-induced endoplasmic reticulum stress and hepatic insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Recent insights into hepatic lipid metabolism in non-alcoholic fatty liver disease (NAFLD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

The level and compartmentalization of phosphatidate phosphatase-1 (lipin-1) control the assembly and secretion of hepatic VLDL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Presecretory oxidation, aggregation, and autophagic destruction of apoprotein-B: a pathway for late-stage quality control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

The tale of two domains: proteomics and genomics analysis of SMYD2, a new histone methyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Inhibition of apolipoprotein B100 secretion by lipid-induced hepatic endoplasmic reticulum stress in rodents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Microsomal triglyceride transfer protein activity is not required for the initiation of apolipoprotein B-containing lipoprotein assembly in McA-RH7777 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Molecular diagnosis of hypobetalipoproteinemia: an ENID review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Roles of phosphatidate phosphatase enzymes in lipid metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Defining lipid-interacting domains in the N-terminal region of apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Lipin 1 is an inducible amplifier of the hepatic PGC-1alpha/PPARalpha regulatory pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Cytoplasmic lipid droplets are sites of convergence of proteasomal and autophagic degradation of apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Apolipoprotein B: a clinically important apolipoprotein which assembles atherogenic lipoproteins and promotes the development of atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Assembly of lipoprotein particles containing apolipoprotein-B: structural model for the nascent lipoprotein particle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

The ER glycoprotein quality control system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Familial hypobetalipoproteinemia: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Lipid-protein interactions in lipovitellin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Stimulation of lipogenesis by pharmacological activation of the liver X receptor leads to production of large, triglyceride-rich very low density lipoprotein particles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Identification of the proteoglycan binding site in apolipoprotein B48.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Complexity in the secretory pathway: the assembly and secretion of apolipoprotein B-containing lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

The activity of microsomal triglyceride transfer protein is essential for accumulation of triglyceride within microsomes in McA-RH7777 cells. A unified model for the assembly of very low density lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

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=2825441

21 June 2018

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=2825441

21 June 2018

Functional analysis of disulfide linkages clustered within the amino terminus of human apolipoprotein B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

MOLMOL: a program for display and analysis of macromolecular structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

The amino terminus of apolipoprotein B is necessary but not sufficient for microsomal triglyceride transfer protein responsiveness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Carboxyl-terminal truncation impairs lipid recruitment by apolipoprotein B100 but does not affect secretion of the truncated apolipoprotein B-containing lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Comparative protein modelling by satisfaction of spatial restraints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Synthesis and secretion of hepatic apolipoprotein B-containing lipoproteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

An expression system for human apolipoprotein B100 in a rat hepatoma cell line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Expression of carboxyl-terminally truncated forms of human apolipoprotein B in rat hepatoma cells. Evidence that the length of apolipoprotein B has a major effect on the buoyant density of the secreted lipoproteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Apolipoprotein B, the major protein component of triglyceride-rich and low density lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

The assembly and secretion of ApoB 100-containing lipoproteins in Hep G2 cells. ApoB 100 is cotranslationally integrated into lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

21 June 2018

Increased very low density lipoprotein secretion and gonadal fat mass in mice overexpressing liver DGAT1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Hyperlipidemic effects of dietary saturated fats mediated through PGC-1beta coactivation of SREBP.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Intracellular assembly of very low density lipoproteins containing apolipoprotein B100 in rat hepatoma McA-RH7777 cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Glycoproteomic reactor for human plasma.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Pediatric gallstone disease in familial hypobetalipoproteinemia.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Hepatic fatty acid synthesis is suppressed in mice with fatty livers due to targeted apolipoprotein B38.9 mutation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Hypobetalipoproteinemic mice with a targeted apolipoprotein (Apo) B-27.6-specifying mutation: in vivo evidence for an important role of amino acids 1254-1744 of ApoB in lipid transport and metabolism of the apoB-containing lipoprotein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.060467

21 January 2018

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2825441

30 October 2018

Apolipoprotein B sequence requirements for hepatic very low density lipoprotein assembly. Evidence that hydrophobic sequences within apolipoprotein B48 mediate lipid recruitment

1 reference

https://pubmed.ncbi.nlm.nih.gov/20032471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal activity of microsomal triglyceride transfer protein is required for the oleate-induced secretion of very low density lipoproteins containing apolipoprotein B from McA-RH7777 cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20032471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of cysteine pairs within the amino-terminal 5% of apolipoprotein B essential for hepatic lipoprotein assembly and secretion

1 reference

https://pubmed.ncbi.nlm.nih.gov/20032471

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/20032471

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/20032471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20032471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M109.060467

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20032471%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20032471%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20032471%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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