LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. (Q47375901)

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29 December 2019

title

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

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Ichizo Nishino

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Steven A Moore

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Kevin P Campbell

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29 December 2019

author name string

Rita Barresi

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Daniel E Michele

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Motoi Kanagawa

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Hollie A Harper

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Sherri A Dovico

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Jakob S Satz

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Wenli Zhang

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Harry Schachter

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Ronald D Cohn

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language of work or name

English

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publication date

6 June 2004

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volume

10

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issue

7

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29 December 2019

page(s)

696-703

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The Fukuyama congenital muscular dystrophy story

29 December 2019

cites work

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

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

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

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

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

21 January 2018

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Membrane organization of the dystrophin-glycoprotein complex

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

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

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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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