(Q30498009)

13 October 2017

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

1 reference

chylomicron retention disease

13 October 2017

1 reference

Dominique Bonnefont-Rousselot

inferred from title

author

3

object named as

Dominique Bonnefont-Rousselot

0 references

0 references

Mathilde Varret

12

1 reference

ORCID Public Data File 2021

Marianne Abifadel

6

object named as

Marianne Abifadel

1 reference

13 October 2017

9

Eric Bruckert

1 reference

13 October 2017

2

Jessica Bonneau

1 reference

13 October 2017

Amandine Georges

1

1 reference

13 October 2017

Jacqueline Champigneulle

4

1 reference

13 October 2017

Jean P Rabès

5

1 reference

13 October 2017

Thomas Aparicio

7

1 reference

13 October 2017

Jean C Guenedet

8

1 reference

13 October 2017

Catherine Boileau

10

1 reference

13 October 2017

Alain Morali

11

1 reference

13 October 2017

Lawrence P Aggerbeck

13

1 reference

13 October 2017

Marie E Samson-Bouma

14

1 reference

13 October 2017

14 January 2011

1 reference

Orphanet Journal of Rare Diseases

13 October 2017

1 reference

13 October 2017

6

1 reference

13 October 2017

1

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

13 October 2017

0 references

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

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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

1 reference