(Q55044973)

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

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

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

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

protein structure

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chylomicron retention disease

1 reference

based on heuristic

inferred from title

6

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

author name string

Mathilde Charcosset

1

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

Agnès Sassolas

2

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

Noël Peretti

3

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

Claude C Roy

4

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

Colette Deslandres

5

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

Emile Levy

7

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

Alain Lachaux

8

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

publication date

22 October 2007

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

Molecular Genetics and Metabolism

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

93

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

1

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http://europepmc.org/abstract/MED/17945526

74-84

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16 June 2018

http://europepmc.org/abstract/MED/17945526

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

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COPII: a membrane coat formed by Sec proteins that drive vesicle budding from the endoplasmic reticulum

1 reference

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COPII-coated vesicle formation reconstituted with purified coat proteins and chemically defined liposomes

1 reference

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7 January 2021

Three ways to make a vesicle

1 reference

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7 January 2021

Structure of the Sec23/24-Sar1 pre-budding complex of the COPII vesicle coat

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Vesicle-associated membrane protein 7 is expressed in intestinal ER

1 reference

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The FoldX web server: an online force field

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Prediction of water and metal binding sites and their affinities by using the Fold-X force field

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

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Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

1 reference

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Solvent accessible surface area and excluded volume in proteins. Analytical equations for overlapping spheres and implications for the hydrophobic effect.

1 reference

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7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

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7 January 2021

The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

The Universal Protein Resource (UniProt).

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

SWISS-MODEL: An automated protein homology-modeling server

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Crystal structure of Sar1-GDP at 1.7 Å resolution and the role of the NH 2 terminus in ER export

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

1 reference

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7 January 2021

Prediction of deleterious human alleles

1 reference

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7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

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7 January 2021

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Accounting for human polymorphisms predicted to affect protein function

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Sar1p N-terminal helix initiates membrane curvature and completes the fission of a COPII vesicle

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Regulation of Sar1 NH2 terminus by GTP binding and hydrolysis promotes membrane deformation to control COPII vesicle fission

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

A novel GTP-binding protein, Sar1p, is involved in transport from the endoplasmic reticulum to the Golgi apparatus.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Fission yeast and a plant have functional homologues of the Sar1 and Sec12 proteins involved in ER to Golgi traffic in budding yeast.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

The intracellular transport of chylomicrons requires the small GTPase, Sar1b

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

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7 January 2021

Modifier genes convert "simple" Mendelian disorders to complex traits

1 reference

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7 January 2021

Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics

1 reference

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7 January 2021

Sterols block binding of COPII proteins to SCAP, thereby controlling SCAP sorting in ER

1 reference

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Cholesterol is required for efficient endoplasmic reticulum-to-Golgi transport of secretory membrane proteins

1 reference

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Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

1 reference

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A membrane glycoprotein, Sec12p, required for protein transport from the endoplasmic reticulum to the Golgi apparatus in yeast

1 reference

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7 January 2021

Cargo selection by the COPII budding machinery during export from the ER

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.08.120

7 January 2021

Role of Sec24 isoforms in selective export of membrane proteins from the endoplasmic reticulum

1 reference

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7 January 2021

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

1 reference

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

1 reference

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10.1016/J.YMGME.2007.08.120

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/17945526

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