(Q30400284)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease (English)

1 reference

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24 January 2020

7

1 reference

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24 January 2020

Josef Voglmeir

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Marco M Meloni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Iain B. Wilson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

author name string

Sara Kaloo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Nicolas Laurent

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Lisa Bohlmann

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

language of work or name

English

0 references

publication date

1 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

436

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

page(s)

447-455

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

24 January 2020

copyright license

start time

25 July 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3133881/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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20 June 2018

Muscle-Eye-Brain disease

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

20 June 2018

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Abnormal glycosylation of dystroglycan in human genetic disease

20 June 2018

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Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

20 June 2018

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A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

20 June 2018

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Dystroglycan glycosylation and its role in alpha-dystroglycanopathies

20 June 2018

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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

20 June 2018

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New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

20 June 2018

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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

20 June 2018

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Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

20 June 2018

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

20 June 2018

1 reference

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X-ray crystal structures of rabbit N-acetylglucosaminyltransferase I (GnT I) in complex with donor substrate analogues

20 June 2018

1 reference

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Expanding the clinical spectrum of POMT1 phenotype.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Molecular basis of N-acetylglucosaminyltransferase I deficiency in Arabidopsis thaliana plants lacking complex N-glycans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

POMGnT1 gene alterations in a family with neurological abnormalities

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I

20 June 2018

1 reference

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

20 June 2018

1 reference

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A stoichiometric complex of neurexins and dystroglycan in brain

20 June 2018

1 reference

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A new beta-1,2-N-acetylglucosaminyltransferase that may play a role in the biosynthesis of mammalian O-mannosyl glycans

20 June 2018

1 reference

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The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle

20 June 2018

1 reference

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20 June 2018

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O-mannosyl glycans in mammals

20 June 2018

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Dystroglycan inside and out.

20 June 2018

1 reference

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Detection of O-mannosyl glycans in rabbit skeletal muscle alpha-dystroglycan

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

The relationship between perlecan and dystroglycan and its implication in the formation of the neuromuscular junction.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Structural studies on sialylated and sulphated O-glycosidic mannose-linked oligosaccharides in the chondroitin sulphate proteoglycan of brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Cranin: a laminin-binding protein of cell membranes

20 June 2018

1 reference

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Membrane organization of the dystrophin-glycoprotein complex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133881

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

20 June 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Cloning and expression of a novel UDP-GlcNAc:α-d-mannoside β1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:α-3-d-mannoside β1,2-N-acetylglucosaminyltransferase I

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Chaperonins govern growth of Escherichia coli at low temperatures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Prenatal diagnosis of muscle-eye-brain disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Independent Lec1A CHO glycosylation mutants arise from point mutations in N-acetylglucosaminyltransferase I that reduce affinity for both substrates. Molecular consequences based on the crystal structure of GlcNAc-TI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Mutations that allow disulfide bond formation in the cytoplasm of Escherichia coli.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Characterization of site-specific O-glycan structures within the mucin-like domain of alpha-dystroglycan from human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

Total synthesis of the mollu-series glycosyl ceramides alpha-D-Manp-(1----3)-beta-D-Manp-(1----4)-beta-D-Glcp-(1----1)-Cer and alpha-D-Manp-(1----3)-[beta-D-Xylp-(1----2)]-beta-D-Manp-(1----4)-beta- D-Glcp-(1----1)-Cer

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

The alpha-helical peptide nucleic acid concept: merger of peptide secondary structure and codified nucleic acid recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20101059

[Muscle-eye-brain disease. Presentation of one case with genetic study.]

21 January 2018

1 reference

12 December 2020

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

12 December 2020

Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases

1 reference

12 December 2020

Pediatric reference ranges for creatine kinase, CKMB, Troponin I, iron, and cortisol

1 reference

12 December 2020

Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ20101059

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21361872%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

PubMed publication ID

21361872

1 reference