The role of defective glycosylation in congenital muscular dystrophy (Q35824015)

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scientific article published in January 2004

Language	Label	Description	Also known as
English	The role of defective glycosylation in congenital muscular dystrophy	scientific article published in January 2004

Statements

scholarly article

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Europe PubMed Central

PubMed publication ID

10 August 2017

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Europe PubMed Central

The role of defective glycosylation in congenital muscular dystrophy (English)

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Europe PubMed Central

PubMed publication ID

10 August 2017

congenital disorder

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1 reference

based on heuristic

inferred from title

author name string

Harry Schachter

1

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Europe PubMed Central

PubMed publication ID

10 August 2017

Jiri Vajsar

2

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Wenli Zhang

3

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Europe PubMed Central

PubMed publication ID

10 August 2017

publication date

1 January 2004

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Europe PubMed Central

PubMed publication ID

10 August 2017

Glycoconjugate Journal

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Europe PubMed Central

PubMed publication ID

10 August 2017

20

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Europe PubMed Central

PubMed publication ID

10 August 2017

5

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Europe PubMed Central

PubMed publication ID

10 August 2017

291-300

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Europe PubMed Central

PubMed publication ID

10 August 2017

Glycosylation defects in inherited muscle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

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The fukutin protein family--predicted enzymes modifying cell-surface molecules

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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Merosin/laminin-2 and muscular dystrophy

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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inferred from PubMed ID database lookup

Systematic nomenclature for sialyltransferases

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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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

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The heterogeneity of microphthalmia in the mentally retarded

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin-associated proteins in muscular dystrophy

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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inferred from PubMed ID database lookup

Laminin Receptors

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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inferred from PubMed ID database lookup

O-mannosyl glycans in mammals

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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inferred from PubMed ID database lookup

Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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inferred from PubMed ID database lookup

alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle-eye-brain disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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inferred from PubMed ID database lookup

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The complexities of dystroglycan

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https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning and characterization of human GnT-IX, a novel beta1,6-N-acetylglucosaminyltransferase that is specifically expressed in the brain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

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Biosynthesis of dystroglycan: processing of a precursor propeptide

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective glycosylation in muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping near the myd locus on mouse chromosome 8

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders involving defective N-glycosylation of proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of O-mannosyl glycans in rabbit skeletal muscle alpha-dystroglycan

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal expression of the fukutin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD).

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosylation in congenital muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of dp6troglycan-laminin interaction in peripheral nerve.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein glycosylation in disease: new insights into the congenital muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

68th ENMC international workshop (5th international workshop): On congenital muscular dystrophy, 9-11 April 1999, Naarden, The Netherlands.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Laminin 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders of glycosylation: genetic model systems lead the way.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe classical congenital muscular dystrophy and merosin expression.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle-eye-brain disease (MEB)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel β(1,6)‐N‐acetylglucosaminyltransferase V (GnT‐VB)1

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role of dystroglycan in schwannoma cell adhesion to laminin

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle-eye-brain disease: a neuropathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrocephaly, Congenital Retinal Nonattachment, And Congenital Falciform Fold

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of the GlcNAc(beta)1,2Man(alpha)- moiety in mammalian development. Null mutations of the genes encoding UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I and UDP-N-acetylglucosamine:alpha-D-mannoside bet

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosylation defects: a new mechanism for muscular dystrophy?

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Receptors for laminin on mammalian cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders of glycosylation: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of dystrophin isoforms and associated proteins in muscular dystrophy (review).

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure/function studies of glycosyltransferases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for dystroglycan in basement membrane assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myodystrophy, a new myopathy on chromosome 8 of the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycobiology of neuromuscular disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for Walker-Warburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/15229394

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/B:GLYC.0000033626.65127.E4

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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