A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). (Q34169991)

31 July 2017

title

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). (English)

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31 July 2017

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François Tercé

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Anne Durandy

object named as

Anne Durandy

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Véronique Pons

object named as

Véronique Pons

1

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author name string

Corinne Rolland

2

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31 July 2017

Michel Nauze

3

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31 July 2017

Marie Danjoux

4

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31 July 2017

Gérald Gaibelet

5

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31 July 2017

Agnès Sassolas

7

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31 July 2017

Emile Lévy

8

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31 July 2017

Xavier Collet

10

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31 July 2017

Emmanuel Mas

11

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31 July 2017

publication date

14 June 2011

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31 July 2017

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31 July 2017

volume

32

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31 July 2017

issue

7

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31 July 2017

page(s)

751-759

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Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

MTP regulated by an alternate promoter is essential for NKT cell development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Microsomal triglyceride transfer protein lipidation and control of CD1d on antigen-presenting cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Multiple, independently regulated pathways of cholesterol transport across the intestinal epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Intestinal cholesterol transport proteins: an update and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Localization of microsomal triglyceride transfer protein in the Golgi: possible role in the assembly of chylomicrons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Spontaneous splicing mutations at the dihydrofolate reductase locus in Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

LXR/RXR activation enhances basolateral efflux of cholesterol in CaCo-2 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Inhibiting proteasomal degradation of microsomal triglyceride transfer protein prevents CCl4-induced steatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

A distal effect of microsomal triglyceride transfer protein deficiency on the lysosomal recycling of CD1d

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Compensatory increase in hepatic lipogenesis in mice with conditional intestine-specific Mttp deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Abetalipoproteinemia: two case reports and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

Mechanisms involved in vitamin E transport by primary enterocytes and in vivo absorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

Transport of vitamin E by differentiated Caco-2 cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

Co-translational degradation of apolipoprotein B100 by the proteasome is prevented by microsomal triglyceride transfer protein. Synchronized translation studies on HepG2 cells treated with an inhibitor of microsomal triglyceride transfer protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21494

7 January 2021

Identifiers

DOI

10.1002/HUMU.21494

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31 July 2017

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