Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. (Q36731388)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23359570%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome (English)

1 reference

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Beta-1,4-glucuronyltransferase 1

22 February 2020

main subject

1 reference

GOA release 2020-03-11

author

Gareth T. Powell

3

1 reference

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22 February 2020

Gavin J. Wright

13

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22 February 2020

Yung-Yao Lin

15

1 reference

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22 February 2020

Hans van Bokhoven

17

1 reference

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22 February 2020

4

Jeroen van Reeuwijk

1 reference

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22 February 2020

author name string

Karen Buysse

1

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22 February 2020

Moniek Riemersma

2

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22 February 2020

David Chitayat

5

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22 February 2020

Tony Roscioli

6

1 reference

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22 February 2020

Erik-Jan Kamsteeg

7

1 reference

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22 February 2020

Christa van den Elzen

8

1 reference

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22 February 2020

Ellen van Beusekom

9

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22 February 2020

Susan Blaser

10

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22 February 2020

Riyana Babul-Hirji

11

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22 February 2020

William Halliday

12

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22 February 2020

Derek L Stemple

14

1 reference

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22 February 2020

Dirk J Lefeber

16

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22 February 2020

publication date

28 January 2013

1 reference

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22 February 2020

published in

Human Molecular Genetics

1 reference

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22 February 2020

volume

22

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22 February 2020

issue

9

1 reference

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22 February 2020

page(s)

1746-1754

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

22 February 2020

cites work

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

30 September 2017

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30 September 2017

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Large induces functional glycans in an O-mannosylation dependent manner and targets GlcNAc terminals on alpha-dystroglycan

30 September 2017

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Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

30 September 2017

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

30 September 2017

1 reference

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Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase

30 September 2017

1 reference

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

30 September 2017

1 reference

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Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation

30 September 2017

1 reference

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Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

30 September 2017

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

30 September 2017

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Glyc-O-genetics of Walker-Warburg syndrome

30 September 2017

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

30 September 2017

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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

30 September 2017

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

30 September 2017

1 reference

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

30 September 2017

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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

30 September 2017

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A stoichiometric complex of neurexins and dystroglycan in brain

30 September 2017

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30 September 2017

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30 September 2017

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

30 September 2017

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Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis

30 September 2017

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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

30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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30 September 2017

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Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

28 June 2018

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28 June 2018

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Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos.

28 June 2018

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5 September 2018

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5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23359570

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23359570%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

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22 February 2020

1 reference

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