(Q37846554)

24 August 2017

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title

Mouse models for congenital disorders of glycosylation (English)

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24 August 2017

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Christian Thiel

1

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24 August 2017

Christian Körner

series ordinal

2

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24 August 2017

publication date

24 February 2011

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Journal of Inherited Metabolic Disease

24 August 2017

published in

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24 August 2017

volume

34

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24 August 2017

issue

4

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24 August 2017

page(s)

879-889

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

24 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Essential and mutually compensatory roles of {alpha}-mannosidase II and {alpha}-mannosidase IIx in N-glycan processing in vivo in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

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%2FS10545-011-9295-7

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%2FS10545-011-9295-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Metabolic manipulation of glycosylation disorders in humans and animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

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%2FS10545-011-9295-7

Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

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%2FS10545-011-9295-7

Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

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/10.1007%2FS10545-011-9295-7

CDG nomenclature: time for a change!

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Transfection of a human gene that corrects the Lec1 glycosylation defect: evidence for transfer of the structural gene for N-acetylglucosaminyltransferase I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Cloning and expression of N-acetylglucosaminyltransferase I, the medial Golgi transferase that initiates complex N-linked carbohydrate formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Targeted mutation in beta1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

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/10.1007%2FS10545-011-9295-7

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Molecular cloning and expression of cDNA encoding the enzyme that controls conversion of high-mannose to hybrid and complex N-glycans: UDP-N-acetylglucosamine: alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

The 'yellow brick road' to branched complex N-glycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

N-glycan branching requirement in neuronal and postnatal viability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9295-7

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

21 January 2018

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12 December 2020

Correction of leukocyte adhesion deficiency type II with oral fucose

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12 December 2020

Carbohydrate-deficient glycoprotein syndrome type 2

1 reference

12 December 2020

Control of glycoprotein synthesis. Kinetic mechanism, substrate specificity, and inhibition characteristics of UDP-N-acetylglucosamine:alpha-D-mannoside beta 1-2 N-acetylglucosaminyltransferase II from rat liver

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

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

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12 December 2020

Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development.

1 reference

12 December 2020

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

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

10.1007/S10545-011-9295-7

Identifiers

DOI

1 reference

24 August 2017

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