ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan (Q36919737)

17 August 2017

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan (English)

1 reference

17 August 2017

8

1 reference

17 August 2017

16

Guido T Bommer

1 reference

17 August 2017

Nathalie Seta

10

0 references

Emile Van Schaftingen

object named as

Emile Van Schaftingen

15

0 references

Giulio G. Muccioli

object named as

Giulio G Muccioli

9

0 references

author name string

Isabelle Gerin

1

1 reference

17 August 2017

Benoît Ury

2

1 reference

17 August 2017

Isabelle Breloy

3

1 reference

17 August 2017

Céline Bouchet-Seraphin

4

1 reference

17 August 2017

Jennifer Bolsée

5

1 reference

17 August 2017

Mathias Halbout

6

1 reference

17 August 2017

Julie Graff

7

1 reference

17 August 2017

Jean-Marie Cuisset

11

1 reference

17 August 2017

Ivana Dabaj

12

1 reference

17 August 2017

Susana Quijano-Roy

13

1 reference

17 August 2017

Ammi Grahn

14

1 reference

17 August 2017

language of work or name

English

0 references

publication date

19 May 2016

1 reference

17 August 2017

Nature Communications

1 reference

17 August 2017

7

1 reference

17 August 2017

11534

1 reference

Creative Commons Attribution 4.0 International

17 August 2017

start time

19 May 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation

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The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

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29 September 2017

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Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy

29 September 2017

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Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion

29 September 2017

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AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan

29 September 2017

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Genome engineering using the CRISPR-Cas9 system

29 September 2017

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LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy

29 September 2017

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Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins

29 September 2017

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29 September 2017

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SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function

29 September 2017

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Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies

29 September 2017

1 reference

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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

29 September 2017

1 reference

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Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

29 September 2017

1 reference

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

29 September 2017

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Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

29 September 2017

1 reference

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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

29 September 2017

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Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

O-linked N,N'-diacetyllactosamine (LacdiNAc)-modified glycans in extracellular matrix glycoproteins are specifically phosphorylated at subterminal N-acetylglucosamine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

The FGGY carbohydrate kinase family: insights into the evolution of functional specificities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Biochemistry of the non-mevalonate isoprenoid pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Glycomic analyses of mouse models of congenital muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Location, synthesis and function of glycolipids and polyglycerolphosphate lipoteichoic acid in Gram-positive bacteria of the phylum Firmicutes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Molecular cloning and expression of a novel cholinephosphotransferase involved in glycoglycerophospholipid biosynthesis of Mycoplasma fermentans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Synthesis of CDP-Activated Ribitol for Teichoic Acid Precursors in Streptococcus pneumoniae

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Novel endo-alpha-N-acetylgalactosaminidases with broader substrate specificity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Different pathways of choline metabolism in two choline-independent strains of Streptococcus pneumoniae and their impact on virulence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Locating proteins in the cell using TargetP, SignalP and related tools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

A cost effective non-commercial ECL-solution for Western blot detections yielding strong signals and low background

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Magnesium-dependent phosphatase-1 is a protein-fructosamine-6-phosphatase potentially involved in glycation repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Posttranslational modification of alpha-dystroglycan, the cellular receptor for arenaviruses, by the glycosyltransferase LARGE is critical for virus binding.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Enhanced laminin binding by alpha-dystroglycan after enzymatic deglycosylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

S-peptide epitope tagging for protein purification, expression monitoring, and localization in mammalian cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Functional requirements for fukutin-related protein in the Golgi apparatus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Biosynthesis of terpenoids: 4-diphosphocytidyl-2C-methyl-D-erythritol synthase of Arabidopsis thaliana

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

acs1 of Haemophilus influenzae type a capsulation locus region II encodes a bifunctional ribulose 5-phosphate reductase- CDP-ribitol pyrophosphorylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Transfecting mammalian cells: optimization of critical parameters affecting calcium-phosphate precipitate formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Uridine diphosphate glucose pyrophosphorylase. IV. Crystallization and properties of the enzyme from human liver

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

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29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Biosynthesis of teichoic acids in Streptococcus pneumoniae and closely related species: lessons from genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

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27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

GTDC2 modifies O-mannosylated α-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Neurofascin 186 is O-mannosylated within and outside of the mucin domain

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Cloning of short hairpin RNAs for gene knockdown in mammalian cells.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Bifunctional catalysis by CDP-ribitol synthase: convergent recruitment of reductase and cytidylyltransferase activities in Haemophilus influenzae and Staphylococcus aureus

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

Region II of the Haemophilus influenzae type be capsulation locus is involved in serotype-specific polysaccharide synthesis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4873967

The performance of microparticle chemically-bonded anion-exchange resins in the analysis of nucleotides

4 September 2018

1 reference

12 December 2020

Purification of the oligosaccharide-cleaving enzymes of Flavobacterium meningosepticum

1 reference

12 December 2020

Mannosylphosphate transfer to yeast mannan

1 reference

12 December 2020

O-Mannose and O-N-acetyl galactosamine glycosylation of mammalian α-dystroglycan is conserved in a region-specific manner

1 reference

12 December 2020

Identification of TP53-induced glycolysis and apoptosis regulator (TIGAR) as the phosphoglycolate-independent 2,3-bisphosphoglycerate phosphatase

1 reference

12 December 2020

Identifiers

DOI

10.1038/NCOMMS11534

1 reference

17 August 2017

0 references

1 reference

17 August 2017

PubMed publication ID

27194101

1 reference