(Q24534247)

4 July 2017

title

Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I (English)

1 reference

congenital disorder of glycosylation

4 July 2017

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1 reference

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6

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author name string

Christian Kranz

1

1 reference

4 July 2017

Jonas Denecke

2

1 reference

4 July 2017

Ludwig Lehle

3

1 reference

4 July 2017

Kristina Sohlbach

4

1 reference

4 July 2017

Stefanie Jeske

5

1 reference

4 July 2017

Rainer Rossi

7

1 reference

4 July 2017

Sonja Gudowius

8

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4 July 2017

Thorsten Marquardt

9

1 reference

4 July 2017

Friedhelm Meinhardt

6

1 reference

4 July 2017

language of work or name

English

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publication date

17 February 2004

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

74

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4 July 2017

issue

3

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4 July 2017

page(s)

545-551

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A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Temperature-sensitive yeast mutants deficient in asparagine-linked glycosylation.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Yeast mutants deficient in protein glycosylation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Solubilization and Characterization of the Initial Enzymes of the Dolichol Pathway from Yeast

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Transformation of yeast by lithium acetate/single-stranded carrier DNA/polyethylene glycol method

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Correction of leukocyte adhesion deficiency type II with oral fucose

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

Overexpression of GDP-mannose pyrophosphorylase in Saccharomyces cerevisiae corrects defects in dolichol-linked saccharide formation and protein glycosylation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

N-glycosylation by transfer of GlcNAc2 from dolichol-PP-GlcNAc2 to the protein moiety of the major yeast exoglucanase

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182267

The N-oligosaccharyltransferase complex from yeast

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14973782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14973782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/382493

1 reference

4 July 2017

1 reference

4 July 2017

1 reference