(Q47375901)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15184894%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies (English)

1 reference

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29 December 2019

1 reference

10

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29 December 2019

Ichizo Nishino

12

1 reference

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29 December 2019

Steven A Moore

7

1 reference

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29 December 2019

Kevin P Campbell

13

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29 December 2019

author name string

Rita Barresi

1

1 reference

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29 December 2019

Daniel E Michele

2

1 reference

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29 December 2019

Motoi Kanagawa

3

1 reference

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29 December 2019

Hollie A Harper

4

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29 December 2019

Sherri A Dovico

5

1 reference

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29 December 2019

Jakob S Satz

6

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29 December 2019

Wenli Zhang

8

1 reference

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29 December 2019

Harry Schachter

9

1 reference

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29 December 2019

Ronald D Cohn

11

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29 December 2019

language of work or name

English

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publication date

6 June 2004

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29 December 2019

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29 December 2019

volume

10

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29 December 2019

page(s)

696-703

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29 December 2019

issue

7

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https://scigraph.springernature.com/pub.10.1038/nm1059

29 December 2019

exact match

0 references

cites work

The Fukuyama congenital muscular dystrophy story

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

21 January 2018

1 reference

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

21 January 2018

1 reference

Membrane organization of the dystrophin-glycoprotein complex

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

21 January 2018

1 reference

Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

21 January 2018

1 reference

Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

21 January 2018

1 reference

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1

21 January 2018

1 reference

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation

21 January 2018

1 reference

Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy

21 January 2018

1 reference

Laminin-induced clustering of dystroglycan on embryonic muscle cells: comparison with agrin-induced clustering.

21 January 2018

1 reference

Overexpression of the CT GalNAc transferase in skeletal muscle alters myofiber growth, neuromuscular structure, and laminin expression.

21 January 2018

1 reference

Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice

21 January 2018

1 reference

Molecular analysis of the interaction of LCMV with its cellular receptor [alpha]-dystroglycan.

21 January 2018

1 reference

Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice

21 January 2018

1 reference

Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy.

21 January 2018

1 reference

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

Walker-Warburg syndrome: neurologic features and muscle membrane structure

21 January 2018

1 reference

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

Congenital muscular dystrophy: an expanding clinical syndrome

21 January 2018

1 reference

7 January 2021

Diagnostic criteria for Walker-Warburg syndrome

1 reference

7 January 2021

Biosynthesis of dystroglycan: processing of a precursor propeptide

1 reference

7 January 2021

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

1 reference

7 January 2021

A role for dystroglycan in basement membrane assembly

1 reference

7 January 2021

Identifiers

DOI

10.1038/NM1059

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15184894%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference