(Q34110629)

31 July 2017

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title

Update and perspectives on congenital disorders of glycosylation (English)

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31 July 2017

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Freeze HH

1

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31 July 2017

1 December 2001

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31 July 2017

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31 July 2017

11

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31 July 2017

12

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31 July 2017

129R-143R

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

31 July 2017

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

21 January 2018

Saving lives with sugar

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Direct utilization of mannose for mammalian glycoprotein biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The impact of glycobiology on medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The Saccharomyces cerevisiae DPM1 gene encoding dolichol-phosphate-mannose synthase is able to complement a glycosylation-defective mammalian cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Aspects of gene regulation during the UPR in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Notch signaling: Fringe really is a glycosyltransferase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

sqv-3, -7, and -8, a set of genes affecting morphogenesis in Caenorhabditis elegans, encode enzymes required for glycosaminoglycan biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The dolichol pathway of N-linked glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Ordered assembly of the asymmetrically branched lipid-linked oligosaccharide in the endoplasmic reticulum is ensured by the substrate specificity of the individual glycosyltransferases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The physiological significance of metabolite channeling: an idea whose time has come

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Glucose metabolism and the channeling of glycolytic intermediates in permeabilized L-929 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Effect of ethanol administration on the level of dolichol in rat liver microsomes and Golgi apparatus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Regulation of the dolichol pathway in human fibroblasts by the endoplasmic reticulum unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The molecular biology of galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

O-mannosyl glycans in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Leukocyte adhesion deficiency II-from A to almost Z.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Balancing N-linked glycosylation to avoid disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The remodeling of glycoconjugates in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Yeast mutants deficient in protein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Leukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling on human nonlymphoid endothelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

21 January 2018

Conformational disease

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Semi-automatic method for determination of different isoforms of carbohydrate-deficient transferrin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Glycosylation, immunity, and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Herpes simplex virus: discovering the link between heparan sulphate and hereditary bone tumours

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Modifier genes in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Molecular basis of disorders of human galactose metabolism: past, present, and future.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Tissue- and site-specific DNA recombination in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Mannose enters mammalian cells using a specific transporter that is insensitive to glucose

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Purification to apparent homogeneity and properties of pig kidney L-fucose kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Genetic dissection of complex traits: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Terminal glycosylation and disease: influence on cancer and cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

QLS motif in transmembrane helix VII of the glucose transporter family interacts with the C-1 position of D-glucose and is involved in substrate selection at the exofacial binding site

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

21 January 2018

Galactosemia unsolved.

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Proteoglycans and pattern formation: sugar biochemistry meets developmental genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Possible reasons why heavy drinking increases carbohydrate-deficient transferrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

PMI40, an intron-containing gene required for early steps in yeast mannosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Glycosylation mutants of animal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Transport of UDP-galactose into the Golgi lumen regulates the biosynthesis of proteoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Congenital disorders of glycosylation: have you encountered them?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

Golgi apparatus immunolocalization of endomannosidase suggests post-endoplasmic reticulum glucose trimming: implications for quality control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F11.12.129R

10.1093/GLYCOB/11.12.129R

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference