(Q24316024)

protein O-linked mannosylation

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Francesco Muntoni

11

0 references

Sebahattin Çırak

7

0 references

William B. Dobyns

William B Dobyns

13

0 references

Steven A Moore

Steven A Moore

18

0 references

Kevin P Campbell

Kevin P Campbell

19

0 references

Katherine Mathews

Katherine D Mathews

16

0 references

David Venzke

David Venzke

6

0 references

Takako Yoshida-Moriguchi

4

Takako Yoshida-Moriguchi

0 references

Stanley F Nelson

17

Stanley F Nelson

0 references

author name string

Tobias Willer

1

0 references

Hane Lee

2

0 references

Mark Lommel

3

0 references

Daniel Beltran Valero de Bernabe

5

0 references

Harry Schachter

8

0 references

Jiri Vajsar

9

0 references

Thomas Voit

10

0 references

Andrea S Loder

12

0 references

Thomas L Winder

14

0 references

Sabine Strahl

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

15

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language of work or name

English

0 references

publication date

May 2012

0 references

published in

Nature Genetics

0 references

volume

44

0 references

issue

5

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page(s)

575-80

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

19 March 2017

Walker-Warburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Structure of 4-diphosphocytidyl-2-C- methylerythritol synthetase involved in mevalonate- independent isoprenoid biosynthesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Methionine biosynthesis in Saccharomyces cerevisiae. I. Genetical analysis of auxotrophic mutants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

A framework for variation discovery and genotyping using next-generation DNA sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Membrane organization of the dystrophin-glycoprotein complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Polyisoprenoids - Secondary metabolites or physiologically important superlipids?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Dystroglycanopathies: coming into focus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Enzymes of the mevalonate pathway of isoprenoid 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=3371168

O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Contribution of the mevalonate and methylerythritol phosphate pathways to the biosynthesis of dolichols in plants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Phenotypic and genetic analysis of a large family with migraine-associated vertigo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Dystroglycan: from biosynthesis to pathogenesis of human disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Mevalonate and nonmevalonate pathways for the biosynthesis of isoprene units.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Molecular analysis of the interaction of LCMV with its cellular receptor [alpha]-dystroglycan.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Membrane mutants of animal cells: rapid identification of those with a primary defect in 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=3371168

Time and mode of fusion of human fibroblasts treated with polyethylene glycol (PEG)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Walker-Warburg syndrome: neurologic features and muscle membrane structure

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Improved techniques for the induction of mammalian cell hybridization by polyethylene glycol

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3371168

Characterization of the 1,4-dihydropyridine receptor using subunit-specific polyclonal antibodies. Evidence for a 32,000-Da subunit

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22522420

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2252

1 reference

Dimensions Publication ID

1045016840

0 references

Fatcat ID

release_s2rfz7qv5ndp7ateiiqe6ucycq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s2rfz7qv5ndp7ateiiqe6ucycq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

1 reference

PubMed publication ID

22522420

1 reference