(Q24336444)

English

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

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scholarly article

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A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation (English)

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congenital disorder

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dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity

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Gene Ontology release 2020-05-02

Gene Ontology ID

ALG8 alpha-1,3-glucosyltransferase

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GOA release 2020-03-11

protein N-linked glycosylation

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GOA release 2020-03-11

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based on heuristic

inferred from title

Patrice Codogno

13

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Hélène Ogier de Baulny

7

object named as

Hélène Ogier de Baulny

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object named as

Nathalie Seta

10

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Isabelle Chantret

object named as

Isabelle Chantret

1

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author name string

Julia Dancourt

2

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Thierry Dupré

3

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Christophe Delenda

4

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Stéphanie Bucher

5

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Sandrine Vuillaumier-Barrot

6

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Celine Peletan

8

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Olivier Danos

9

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Geneviève Durand

11

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Rafael Oriol

12

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Stuart E H Moore

14

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language of work or name

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publication date

14 March 2003

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Journal of Biological Chemistry

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278

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11

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9962-71

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Balancing N-linked glycosylation to avoid disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Congenital disorders of glycosylation: genetic model systems lead the way.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

The carbohydrate-deficient glycoprotein syndromes: an overview

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Congenital disorders involving defective N-glycosylation of proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Diseases of abnormal protein glycosylation: an emerging area

1 reference

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21 January 2018

Biological roles of oligosaccharides: all of the theories are correct

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

1 reference

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21 January 2018

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Human fibroblasts prefer mannose over glucose as a source of mannose for N-glycosylation. Evidence for the functional importance of transported mannose

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Human glycosylation disorders and sugar supplement therapy.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Transport of free polymannose-type oligosaccharides from the endoplasmic reticulum into the cytosol is inhibited by mannosides and requires a thapsigargin-sensitive calcium store

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Northern blot normalization with a 28S rRNA oligonucleotide probe.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Reversible forskolin-induced impairment of sucrase-isomaltase mRNA levels, biosynthesis, and transport to the brush border membrane in Caco-2 cells.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

New phenotype of mutations deficient in glucosylation of the lipid-linked oligosaccharide: cloning of the ALG8 locus

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Control of glucuronidation during hypoxia. Limitation by UDP-glucose pyrophosphorylase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Isolation of the ALG6 locus of Saccharomyces cerevisiae required for glucosylation in the N-linked glycosylation pathway

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

The ALG10 locus of Saccharomyces cerevisiae encodes the alpha-1,2 glucosyltransferase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Aligning two sequences within a specified diagonal band

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

A simple method for displaying the hydropathic character of a protein

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Cytosol-to-lysosome transport of free polymannose-type oligosaccharides. Kinetic and specificity studies using rat liver lysosomes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Growth-related coordinate regulation of the early N-glycosylation genes in yeast

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

ALG gene expression and cell cycle progression

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Proliferation-dependent differential regulation of the dolichol pathway genes in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

A biochemical chimera suggesting the existence of at least two dolichol-P-glucose:dolichol-P-P-oligosaccharide glucosyltransferases

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M211950200

21 January 2018

Endoplasmic reticulum-to-cytosol transport of free polymannose oligosaccharides in permeabilized HepG2 cells.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1074/JBC.M211950200

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