(Q24534224)

4 July 2017

title

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. (English)

1 reference

dolichyl-P-Man:GDP-ManGlcNAc2-PP-dolichyl beta-1,4-mannosyltransferase, putative

4 July 2017

0 references

1 reference

GeneDB

dolichyl-P-Man:GDP-ManGlcNAc2-PP-dolichyl beta-1,4-mannosyltransferase, putative

5 February 2019

1 reference

GeneDB

dolichyl-P-Man:GDP-ManGlcNAc2-PP-dolichyl beta-1,4-mannosyltransferase, putative

6 February 2019

0 references

dolichyl-P-Man:GDP-ManGlcNAc2-PP-dolichyl beta-1,4-mannosyltransferase, putative

0 references

dolichyl-P-Man:GDP-ManGlcNAc2-PP-dolichyl beta-1,4-mannosyltransferase, putative

0 references

dolichyl-P-Man:GDP-ManGlcNAc2-PP-dolichyl beta-1,4-mannosyltransferase, putative

0 references

1 reference

1 reference

congenital disorder of glycosylation

1 reference

6

Kurt von Figura

0 references

author name string

Markus Schwarz

1

1 reference

4 July 2017

Christian Thiel

2

1 reference

4 July 2017

Jürgen Lübbehusen

3

1 reference

4 July 2017

Bert Dorland

4

1 reference

4 July 2017

Tom de Koning

5

1 reference

4 July 2017

Ludwig Lehle

7

1 reference

4 July 2017

Christian Körner

8

1 reference

4 July 2017

language of work or name

English

0 references

publication date

16 February 2004

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

74

1 reference

4 July 2017

issue

3

1 reference

4 July 2017

page(s)

472-481

1 reference

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

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=1182261

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

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=1182261

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=1182261

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=1182261

The oligosaccharyltransferase complex from Saccharomyces cerevisiae. Isolation of the OST6 gene, its synthetic interaction with OST3, and analysis of the native complex

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

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=1182261

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=1182261

Intracellular functions of N-linked glycans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

Applications of high efficiency lithium acetate transformation of intact yeast cells using single-stranded nucleic acids as carrier

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

The contribution of N-glycans and their processing in the endoplasmic reticulum to glycoprotein biosynthesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182261

Transmembrane movement of oligosaccharide-lipids during glycoprotein synthesis

29 November 2018

1 reference

12 December 2020

The N-oligosaccharyltransferase complex from yeast

1 reference

12 December 2020

Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency

1 reference

12 December 2020

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1086/382492

1 reference

4 July 2017

1 reference

4 July 2017

1 reference