Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies (Q28205188)

European Journal of Pediatrics

Europe PubMed Central

title

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies (English)

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T Marquardt

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J Denecke

series ordinal

2

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language of work or name

English

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publication date

June 2003

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published in

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volume

162

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page(s)

359-79

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issue

6

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exact match

https://scigraph.springernature.com/pub.10.1007/s00431-002-1136-0

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cites work

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Carbohydrate-deficient glycoprotein syndrome type II

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Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein

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The dolichol pathway of N-linked glycosylation

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Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search

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Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

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

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Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

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Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins

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Protein glucosylation and its role in protein folding

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Genetic heterogeneity of congenital dyserythropoietic anemia type II

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

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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

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Disialotransferrin developmental deficiency syndrome

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

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Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

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O-mannosyl glycans in mammals

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Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II

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Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II

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Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus

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Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

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

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

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Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

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

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

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

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

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A new variant of the carbohydrate deficient glycoproteins syndrome

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

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Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11

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Oligosaccharyltransferase: a complex multisubunit enzyme of the endoplasmic reticulum

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

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Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: association of low level of membrane-bound form of galactosyltransferase.

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The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

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Leukocyte adhesion deficiency type II: long-term follow-up

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Structure of fetal lactosaminoglycan. The carbohydrate moiety of Band 3 isolated from human umbilical cord erythrocytes

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Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for Hereditary Multiple Exostoses.

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Decreased glycosylation of band 3 and band 4.5 glycoproteins of erythrocyte membrane in congenital dyserythropoietic anaemia type II

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Renal cysts in the carbohydrate-deficient glycoprotein syndrome

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

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Fucose in N-glycans: from plant to man.

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

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The alpha subunit of the Saccharomyces cerevisiae oligosaccharyltransferase complex is essential for vegetative growth of yeast and is homologous to mammalian ribophorin I.

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A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi

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Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency

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12 December 2020

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

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12 December 2020

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

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Dyserythropoiesis and congenital dyserythropoietic anaemias

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

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Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

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Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS)

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12 December 2020

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

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12 December 2020

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

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Effect of okadaic acid on O-linked N-acetylglucosamine levels in a neuroblastoma cell line

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12 December 2020

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

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12 December 2020

Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts

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12 December 2020

Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation

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12 December 2020

Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Defective galactosylation of serum transferrin in galactosemia

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12 December 2020

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

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12 December 2020

Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis

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12 December 2020

Pathways of O-glycan biosynthesis in cancer cells

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Assembly of asparagine-linked oligosaccharides

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12 December 2020

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

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12 December 2020

Hereditary Erythroblastic Multinuclearity Associated with a Positive Acidified-Serum Test: a Type of Congenital Dyserythropoietic Anaemia

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12 December 2020

A new beta-1,2-N-acetylglucosaminyltransferase that may play a role in the biosynthesis of mammalian O-mannosyl glycans

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12 December 2020

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

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12 December 2020

Diagnosis and nosology of glycanosis CDG ("carbohydrate deficient glycoprotein syndrome")

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12 December 2020

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

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12 December 2020

Overview of N- and O-linked oligosaccharide structures found in various yeast species

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12 December 2020

A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome

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12 December 2020

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency

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12 December 2020

O-linked fucose and other post-translational modifications unique to EGF modules

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12 December 2020

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

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12 December 2020

Ultrastructural abnormalities of erythroblasts and erythrocytes in 6 cases of congenital dyserythropoietic anemia

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12 December 2020

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

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12 December 2020

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

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12 December 2020

Positional cloning of a gene involved in hereditary multiple exostoses

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12 December 2020

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

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12 December 2020

The carbohydrate-deficient glycoprotein syndromes: an overview

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12 December 2020

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

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12 December 2020

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

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12 December 2020

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

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12 December 2020

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

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12 December 2020

Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.

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12 December 2020

O-Glycosylation of nuclear and cytosolic proteins. Dynamic interplay between O-GlcNAc and O-phosphate

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12 December 2020

Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II)

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12 December 2020

Purification and characterization of GDP-L-Fuc: N-acetyl beta-D-glucosaminide alpha1-->6fucosyltransferase from human blood platelets

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12 December 2020

Importance of glycosidases in mammalian glycoprotein biosynthesis

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12 December 2020

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

1 reference

12 December 2020

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

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12 December 2020

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

1 reference

12 December 2020

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

1 reference

12 December 2020

O-glycosylation of the mucin type

1 reference

12 December 2020

Subcellular localization of the UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase-mediated O-glycosylation reaction in the submaxillary gland

1 reference

12 December 2020

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

1 reference

12 December 2020

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

1 reference

12 December 2020

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

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12 December 2020

Regulation of the glycosylations of collagen hydroxylysine in chick embryo tendon and cartilage cells

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12 December 2020

The alpha1-6-fucosyltransferase gene and its biological significance

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12 December 2020

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)

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12 December 2020

Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.

1 reference

12 December 2020

Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry

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12 December 2020

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

1 reference

12 December 2020

New diagnosis and treatment of congenital hepatic fibrosis

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12 December 2020

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

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12 December 2020

Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

1 reference

12 December 2020

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

12 December 2020

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy

1 reference

12 December 2020

Membrane organization of the dystrophin-glycoprotein complex

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12 December 2020

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

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12 December 2020

Concepts and principles of O-linked glycosylation

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12 December 2020

The carbohydrate deficient glycoprotein syndrome in three Japanese children

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12 December 2020

Genetic remodeling of protein glycosylation in vivo induces autoimmune disease

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12 December 2020

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

1 reference

12 December 2020

O-linked N-acetylglucosamine: the "yin-yang" of Ser/Thr phosphorylation? Nuclear and cytoplasmic glycosylation

1 reference

12 December 2020

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

1 reference

12 December 2020

Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene.

1 reference

12 December 2020

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

1 reference

12 December 2020

Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

1 reference

12 December 2020

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

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12 December 2020

Natural history of congenital dyserythropoietic anemia type II.

1 reference

12 December 2020

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

1 reference

12 December 2020

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid

1 reference

12 December 2020

Ocular pathology in disialotransferrin developmental deficiency syndrome

1 reference

12 December 2020

Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism

1 reference

12 December 2020

Red cell membrane protein anomalies in congenital dyserythropoietic anaemia, type II (HEMP AS)

1 reference

12 December 2020

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

1 reference

12 December 2020