Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia (Q24671906)

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S A Chester

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J Read

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D J Brett

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G B Harrison

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T T Grantham

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M F Fox

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S Povey

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T W de Bruin

American Journal of Human Genetics

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language of work or name

English

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publication date

December 1995

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published in

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volume

57

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page(s)

1298-310

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issue

6

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cites work

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Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

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

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Human regeneration protein/lithostathine genes map to chromosome 2p12

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Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

7 April 2017

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The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain

7 April 2017

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Human microsomal triglyceride transfer protein large subunit gene structure

7 April 2017

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Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency

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Oleate stimulates secretion of apolipoprotein B-containing lipoproteins from Hep G2 cells by inhibiting early intracellular degradation of apolipoprotein B

7 April 2017

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Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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Plasma cholesteryl ester transfer protein

7 April 2017

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A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy

28 September 2017

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Secretion of apolipoprotein B-containing lipoproteins from HeLa cells is dependent on expression of the microsomal triglyceride transfer protein and is regulated by lipid availability

28 September 2017

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Lipoprotein receptors in the liver. Control signals for plasma cholesterol traffic

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Compilation and analysis of eukaryotic POL II promoter sequences

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Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia

28 September 2017

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Fidelity of DNA polymerases in DNA amplification

28 September 2017

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Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia

28 September 2017

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Protein degradation in the endoplasmic reticulum

28 September 2017

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Minisatellite repeat coding as a digital approach to DNA typing

28 September 2017

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Slippage synthesis of simple sequence DNA

28 September 2017

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Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in a nonhepatic cell line

28 September 2017

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Long-term management of abetalipoproteinaemia. Possible role for vitamin E

28 September 2017

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Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells

28 September 2017

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A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia

28 September 2017

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Microsomal triglyceride transfer protein activity remains unchanged in rat livers under conditions of altered very-low-density lipoprotein secretion

28 September 2017

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

30 May 2018

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The assembly and secretion of apoB 100 containing lipoproteins in Hep G2 cells. Evidence for different sites for protein synthesis and lipoprotein assembly

30 May 2018

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Oleate-mediated stimulation of apolipoprotein B secretion from rat hepatoma cells. A function of the ability of apolipoprotein B to direct lipoprotein assembly and escape presecretory degradation

30 May 2018

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De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

30 May 2018

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VITAMIN E AND NEUROLOGICAL FUNCTION

30 May 2018

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12 December 2020

The location of bound lipid in the lipovitellin complex

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12 December 2020

Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia

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12 December 2020

Characterization of a panel of highly variable minisatellites cloned from human DNA

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12 December 2020

Structure of the lamprey yolk lipid-protein complex lipovitellin-phosvitin at 2.8 Å resolution

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12 December 2020

The apolipoprotein B gene is constitutively expressed in HepG2 cells: regulation of secretion by oleic acid, albumin, and insulin, and measurement of the mRNA half-life

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12 December 2020

Apolipoprotein B is both integrated into and translocated across the endoplasmic reticulum membrane. Evidence for two functionally distinct pools

1 reference

12 December 2020

Mechanism of microsomal triglyceride transfer protein catalyzed lipid transport

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12 December 2020

Proteolysis and lipid-facilitated translocation are distinct but competitive processes that regulate secretion of apolipoprotein B in Hep G2 cells

1 reference

12 December 2020

A novel splicing abnormality in a Japanese patient with Gaucher's disease

1 reference

12 December 2020