Therapies and therapeutic approaches in Congenital Disorders of Glycosylation (Q38043955)

27 August 2017

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation (English)

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27 August 2017

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Christian Thiel

1

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PubMed ID

22983739

27 August 2017

Christian Körner

series ordinal

2

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27 August 2017

16 September 2012

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27 August 2017

Glycoconjugate Journal

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27 August 2017

30

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27 August 2017

77-84

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27 August 2017

1

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https://scigraph.springernature.com/pub.10.1007/s10719-012-9447-5

27 August 2017

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cites work

Glycans in cancer and inflammation--potential for therapeutics and diagnostics

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The glycobiology of brain tumors: disease relevance and therapeutic potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Glycosylation diseases: quo vadis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Congenital disorders of glycosylation: sweet news

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Congenital muscular dystrophies: a brief review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Development of liver disease despite mannose treatment in two patients with CDG-Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

MANNOSE UTILIZATION IN MAN

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Enzymatic basis of mannose toxicity in honey bees.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Mechanism of mannose toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

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/10.1007%2FS10719-012-9447-5

Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Leukocyte adhesion deficiency II: therapy and genetic defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Membrane-permeant derivatives of mannose-1-phosphate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Metformin-stimulated mannose transport in dermal fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Mouse models for congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Protein O-mannosylation is necessary for normal embryonic development in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

High-throughput RNAi screening for N-glycosylation dependent loci in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9447-5

Correction of leukocyte adhesion deficiency type II with oral fucose

21 January 2018

1 reference

12 December 2020

Fucose supplementation in leukocyte adhesion deficiency type II

1 reference

12 December 2020

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

1 reference

12 December 2020

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy

1 reference

12 December 2020

Targeted therapy for inherited GPI deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10719-012-9447-5

Identifiers

DOI

1 reference

PubMed ID

22983739

Dimensions Publication ID

27 August 2017

0 references

1 reference

PubMed ID

22983739