Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies (Q28256756)

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12 January 2020

title

Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies (English)

1 reference

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Glycosyltransferase-like 1b

12 January 2020

main subject

1 reference

GOA release 2020-03-11

author

Chris J Moore

3

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12 January 2020

author name string

Prabhjit K Grewal

1

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12 January 2020

Jennifer M McLaughlan

2

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12 January 2020

Claudia A Browning

4

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12 January 2020

Jane E Hewitt

5

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12 January 2020

language of work or name

English

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publication date

15 June 2005

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12 January 2020

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12 January 2020

volume

15

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12 January 2020

issue

10

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12 January 2020

page(s)

912-923

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

12 January 2020

cites work

1 reference

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

21 January 2018

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

21 January 2018

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Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

21 January 2018

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A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering

21 January 2018

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Distribution of alpha-dystroglycan during embryonic nerve-muscle synaptogenesis.

21 January 2018

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Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses

21 January 2018

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An evolving hierarchical family classification for glycosyltransferases

21 January 2018

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Brefeldin A redistributes resident and itinerant Golgi proteins to the endoplasmic reticulum

21 January 2018

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Membrane organization of the dystrophin-glycoprotein complex

21 January 2018

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Multiple transcription initiation and alternative splicing in the 5' untranslated region of the core 2 beta1-6 N-acetylglucosaminyltransferase I gene

21 January 2018

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LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE

21 January 2018

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

21 January 2018

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Conservation of components of the dystrophin complex in Drosophila.

21 January 2018

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Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy

21 January 2018

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Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

21 January 2018

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Genetic evidence for a dystrophin-glycoprotein complex (DGC) in Caenorhabditis elegans

21 January 2018

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Molecular basis for structural diversity in the core regions of the lipopolysaccharides of Escherichia coli and Salmonella enterica

21 January 2018

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Dystroglycan inside and out.

21 January 2018

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Glycosylation defects: a new mechanism for muscular dystrophy?

21 January 2018

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Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders

21 January 2018

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

21 January 2018

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The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity

21 January 2018

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Molecular recognition by LARGE is essential for expression of functional dystroglycan

21 January 2018

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A novel Golgi-localisation domain shared by a class of coiled-coil peripheral membrane proteins

21 January 2018

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 January 2018

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A molecular timescale for vertebrate evolution

21 January 2018

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Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects.

21 January 2018

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Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: evidence for membrane cycling from Golgi to ER

21 January 2018

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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

21 January 2018

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

21 January 2018

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Dystroglycan glycosylation and its role in matrix binding in skeletal muscle

21 January 2018

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Glycobiology of neuromuscular disorders

21 January 2018

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Activity and tissue distribution of splice variants of alpha6-fucosyltransferase in human embryogenesis.

21 January 2018

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The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

21 January 2018

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Phenotypic spectrum associated with mutations in the fukutin-related protein gene

21 January 2018

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Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.

21 January 2018

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

21 January 2018

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Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

21 January 2018

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Characterization of a cis-Golgi matrix protein, GM130

21 January 2018

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

21 January 2018

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The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family

21 January 2018

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

21 January 2018

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Proteolytic enzymes and altered glycosylation modulate dystroglycan function in carcinoma cells.

21 January 2018

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Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

21 January 2018

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Gene structure and transcriptional regulation of human Gal beta1,4(3) GlcNAc alpha2,3-sialyltransferase VI (hST3Gal VI) gene in prostate cancer cell line

21 January 2018

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All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases

21 January 2018

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Cell type-dependent variations in the subcellular distribution of alpha-mannosidase I and II

21 January 2018

1 reference

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Activity of the yeast MNN1 alpha-1,3-mannosyltransferase requires a motif conserved in many other families of glycosyltransferases

21 January 2018

1 reference

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Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

21 January 2018

1 reference

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Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice

21 January 2018

1 reference

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The complexities of dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2FCWI094

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2FCWI094

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2FCWI094

21 January 2018

Identifiers

DOI

10.1093/GLYCOB/CWI094

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15958417%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017