Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) (Q30498009)

13 October 2017

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) (English)

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chylomicron retention disease

13 October 2017

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Dominique Bonnefont-Rousselot

inferred from title

author

3

object named as

Dominique Bonnefont-Rousselot

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Mathilde Varret

12

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ORCID Public Data File 2021

Marianne Abifadel

6

object named as

Marianne Abifadel

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13 October 2017

9

Eric Bruckert

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13 October 2017

2

Jessica Bonneau

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13 October 2017

Amandine Georges

1

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13 October 2017

Jacqueline Champigneulle

4

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13 October 2017

Jean P Rabès

5

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13 October 2017

Thomas Aparicio

7

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13 October 2017

Jean C Guenedet

8

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13 October 2017

Catherine Boileau

10

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13 October 2017

Alain Morali

11

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13 October 2017

Lawrence P Aggerbeck

13

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13 October 2017

Marie E Samson-Bouma

14

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13 October 2017

14 January 2011

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Orphanet Journal of Rare Diseases

13 October 2017

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13 October 2017

6

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13 October 2017

1

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https://scigraph.springernature.com/pub.10.1186/1750-1172-6-1

13 October 2017

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cites work

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The identification of the SNARE complex required for the fusion of VLDL-transport vesicle with hepatic cis-Golgi

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

A novel multiprotein complex is required to generate the prechylomicron transport vesicle from intestinal ER

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The biogenesis of chylomicrons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

New insights into the structural mechanisms of the COPII coat

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Sec24C is required for docking the prechylomicron transport vesicle with the Golgi

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Diet-induced alterations in intestinal and extrahepatic lipid metabolism in liver fatty acid binding protein knockout mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

PCSK9: a convertase that coordinates LDL catabolism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Structural basis for cargo regulation of COPII coat assembly

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Molecular basis of PCSK9 function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Coordination of COPII vesicle trafficking by Sec23.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Assembly, organization, and function of the COPII coat

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Protection against Western diet-induced obesity and hepatic steatosis in liver fatty acid-binding protein knockout mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The COPII cage: unifying principles of vesicle coat assembly

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The identification of a novel endoplasmic reticulum to Golgi SNARE complex used by the prechylomicron transport vesicle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Vesicle-associated membrane protein 7 is expressed in intestinal ER

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

COPII-coated vesicles: flexible enough for large cargo?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Large-scale profiling of Rab GTPase trafficking networks: the membrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Expression of Sara2 human gene in erythroid progenitors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

A gene atlas of the mouse and human protein-encoding transcriptomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Apolipoprotein B100 exit from the endoplasmic reticulum (ER) is COPII-dependent, and its lipidation to very low density lipoprotein occurs post-ER.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Genetic mosaic analysis based on Cre recombinase and navigated laser capture microdissection

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The role of the microsomal triglygeride transfer protein in abetalipoproteinemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Multiple levels of control of the stage- and region-specific expression of rat intestinal lactase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Studies on lipoprotein metabolism in a family with jejunal chylomicron retention.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Cellular differentiation in the emerging fetal rat small intestinal epithelium: mosaic patterns of gene expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Use of bacterial expression cloning to localize the epitopes for a series of monoclonal antibodies against apolipoprotein B100

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Relation of triglyceride metabolism and coronary artery disease. Studies in the postprandial state.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Decreased fluidity of red cell membrane lipids in abetalipoproteinemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Chylomicron retention disease: a long term study of two cohorts

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Acanthocytes and hypocholesterolemia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

PKC zeta-mediated phosphorylation controls budding of the pre-chylomicron transport vesicle.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

VLDL exits from the endoplasmic reticulum in a specialized vesicle, the VLDL transport vesicle, in rat primary hepatocytes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

COPII proteins are required for Golgi fusion but not for endoplasmic reticulum budding of the pre-chylomicron transport vesicle

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

Liver Fatty Acid-binding Protein Initiates Budding of Pre-chylomicron Transport Vesicles from Intestinal Endoplasmic Reticulum

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029219

26 November 2018

1 reference

12 December 2020

Enzymatic determination of total serum cholesterol

1 reference

12 December 2020

Serum triglycerides determined colorimetrically with an enzyme that produces hydrogen peroxide

1 reference

12 December 2020

Action tremor as a manifestation of chylomicron retention disease

1 reference

12 December 2020

Monoclonal antibodies to low density lipoprotein used for the study of low- and very-low-density lipoproteins, in “ELISA” and immunoprecipitation technics

1 reference

12 December 2020

[Anderson's disease. Apropos of a new case]

1 reference

12 December 2020

[Anderson's disease. Clinical and morphologic study of 7 cases]

1 reference

12 December 2020

International Federation of Clinical Chemistry standardization project for measurements of apolipoproteins A-I and B. II. Evaluation and selection of candidate reference materials

1 reference

12 December 2020

Anderson's disease: no linkage to the apo B locus

1 reference

12 December 2020

Mosaic regulation of lactase in human adult-type hypolactasia

1 reference

12 December 2020

[Anderson's disease (steatorrhea due to the retention of chylomicrons): diagnostic criteria]

1 reference

12 December 2020

[Multicenter evaluation on different analyzers of three methods for direct HDL-cholesterol assay]

1 reference

12 December 2020

[Congenital absence of beta-lipoproteins: study of fat absorption after exsanguinotransfusion measuring the half-life of injected beta-lipoproteins.]

1 reference

12 December 2020

Unusual causes of steatorrhoea in infancy and childhood

1 reference

12 December 2020

The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population

1 reference

12 December 2020

SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases

1 reference

12 December 2020

Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes

1 reference

12 December 2020

Chylomicron retention disease: dystonia as a new clinical feature

1 reference

12 December 2020

Celiac disease or chylomicron retention disease?

1 reference

12 December 2020

Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-1

1 reference

Dimensions Publication ID

13 October 2017

0 references

1 reference

13 October 2017

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