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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29 December 2019

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29 December 2019

Ichizo Nishino

12

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29 December 2019

Steven A Moore

7

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29 December 2019

Kevin P Campbell

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29 December 2019

author name string

Rita Barresi

1

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29 December 2019

Daniel E Michele

2

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29 December 2019

Motoi Kanagawa

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29 December 2019

Hollie A Harper

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29 December 2019

Sherri A Dovico

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29 December 2019

Jakob S Satz

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29 December 2019

Wenli Zhang

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29 December 2019

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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29 December 2019

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29 December 2019

volume

10

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issue

7

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page(s)

696-703

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The Fukuyama congenital muscular dystrophy story

29 December 2019

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

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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

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

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

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

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

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

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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

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

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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

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21 January 2018

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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

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7 January 2021

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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

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7 January 2021

Identifiers

DOI

10.1038/NM1059

1 reference

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29 December 2019

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