Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan (Q24321692)

GOA release 2020-03-11

protein glycosylation

1 reference

Beta-1,3-N-acetylgalactosaminyltransferase 2

GOA release 2020-03-11

1 reference

congenital muscular dystrophy

GOA release 2020-03-11

1 reference

26

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Sebahattin Çırak

3

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Yung-Yao Lin

Yung-Yao Lin

25

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Keren J Carss

Keren J Carss

2

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Mustafa A. Salih

Mustafa A Salih

18

0 references

William B. Dobyns

William B Dobyns

14

0 references

Kevin P Campbell

Kevin P Campbell

21

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Christopher A. Walsh

19

Christopher A Walsh

0 references

Matthew Hurles

20

Matthew Hurles

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author name string

Elizabeth Stevens

1

0 references

A Reghan Foley

4

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Silvia Torelli

5

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Tobias Willer

6

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Dimira E Tambunan

7

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Shu Yau

8

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Lina Brodd

9

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Caroline A Sewry

10

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Lucy Feng

11

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Goknur Haliloglu

12

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Diclehan Orhan

13

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Gregory M Enns

15

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Melanie Manning

16

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Amanda Krause

17

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M Chiara Manzini

22

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Derek Stemple

American Journal of Human Genetics

24

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language of work or name

English

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publication date

7 March 2013

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published in

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volume

92

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issue

3

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page(s)

354-65

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describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3591840/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

1 reference

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

19 March 2017

1 reference

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Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

19 March 2017

1 reference

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A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

p53 activation by knockdown technologies

19 March 2017

1 reference

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

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

19 March 2017

1 reference

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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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

19 March 2017

1 reference

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

19 March 2017

1 reference

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A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc

19 March 2017

1 reference

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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

19 March 2017

1 reference

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Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Distribution of dystroglycan in normal adult mouse tissues

19 March 2017

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

19 March 2017

1 reference

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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=3591840

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Glycoproteomic characterization of recombinant mouse α-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=3591840

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=3591840

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Morpholino artifacts provide pitfalls and reveal a novel role for pro-apoptotic genes in hindbrain boundary development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Regulation of O-glycosylation through Golgi-to-ER relocation of initiation enzymes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

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=3591840

Old World arenavirus infection interferes with the expression of functional alpha-dystroglycan in the host cell

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Glyc-O-genetics of Walker-Warburg syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Dystroglycan in skin and cutaneous cells: beta-subunit is shed from the cell surface

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Analysis of gene function in the zebrafish retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Non-muscle alpha-dystroglycan is involved in epithelial development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Diagnostic criteria for Walker-Warburg syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Molecular heterogeneity in fetal forms of type II lissencephaly.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Dystroglycan in development and disease.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591840

Single section Western blot: Improving the molecular diagnosis of the muscular dystrophies

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23453667

12 December 2020

inferred from PubMed ID database lookup

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/23453667

12 December 2020

inferred from PubMed ID database lookup

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23453667

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.01.016

1 reference

1 reference

1 reference

PubMed publication ID

23453667

1 reference