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

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scientific article published in January 2004

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English	The role of defective glycosylation in congenital muscular dystrophy	scientific article published in January 2004

Statements

instance of

scholarly article

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stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

review article

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stated in

Europe PubMed Central

title

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

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stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

main subject

congenital disorder

0 references

glycosylation

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based on heuristic

inferred from title

author name string

Harry Schachter

series ordinal

1

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stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

Jiri Vajsar

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

Wenli Zhang

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

publication date

1 January 2004

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stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

published in

Glycoconjugate Journal

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stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

volume

20

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

issue

5

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stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

page(s)

291-300

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Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

cites work

Glycosylation defects in inherited muscle disease

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PubMed

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

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12 December 2020

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

1 reference

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PubMed

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

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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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PubMed

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

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12 December 2020

based on heuristic

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

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PubMed

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

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12 December 2020

based on heuristic

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Merosin/laminin-2 and muscular dystrophy

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PubMed

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

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12 December 2020

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Systematic nomenclature for sialyltransferases

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PubMed

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

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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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PubMed

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

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12 December 2020

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

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PubMed

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

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12 December 2020

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The heterogeneity of microphthalmia in the mentally retarded

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PubMed

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

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12 December 2020

based on heuristic

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Dystrophin-associated proteins in muscular dystrophy

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

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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

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PubMed

reference URL

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

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12 December 2020

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Laminin Receptors

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PubMed

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

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12 December 2020

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O-mannosyl glycans in mammals

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PubMed

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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

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12 December 2020

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

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PubMed

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

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12 December 2020

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Muscle-eye-brain disease

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PubMed

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

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12 December 2020

based on heuristic

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

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PubMed

reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The complexities of dystroglycan

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PubMed

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

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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

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PubMed

reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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

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12 December 2020

based on heuristic

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

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PubMed

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of dystroglycan: processing of a precursor propeptide

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PubMed

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

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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.

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PubMed

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

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12 December 2020

based on heuristic

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

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PubMed

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

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12 December 2020

based on heuristic

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

1 reference

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective glycosylation in muscular dystrophy

1 reference

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping near the myd locus on mouse chromosome 8

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders involving defective N-glycosylation of proteins

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PubMed

reference URL

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

retrieved

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

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PubMed

reference URL

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

retrieved

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

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PubMed

reference URL

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

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12 December 2020

based on heuristic

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

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PubMed

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

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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

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PubMed

reference URL

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

retrieved

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

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal expression of the fukutin gene

1 reference

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

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

retrieved

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

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PubMed

reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosylation in congenital muscular dystrophies

1 reference

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PubMed

reference URL

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

retrieved

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

stated in

PubMed

reference URL

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

retrieved

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

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of dp6troglycan-laminin interaction in peripheral nerve.

1 reference

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PubMed

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

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

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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

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PubMed

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

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12 December 2020

based on heuristic

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

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PubMed

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

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12 December 2020

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

1 reference

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PubMed

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

retrieved

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

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

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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

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PubMed

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

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12 December 2020

based on heuristic

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

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

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12 December 2020

based on heuristic

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Severe classical congenital muscular dystrophy and merosin expression.

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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

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

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12 December 2020

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Muscle-eye-brain disease (MEB)

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

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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

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PubMed

reference URL

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

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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

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PubMed

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role of dystroglycan in schwannoma cell adhesion to laminin

1 reference

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PubMed

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

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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

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

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12 December 2020

based on heuristic

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Muscle-eye-brain disease: a neuropathological study

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

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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

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PubMed

reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrocephaly, Congenital Retinal Nonattachment, And Congenital Falciform Fold

1 reference

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

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PubMed

reference URL

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

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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

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PubMed

reference URL

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

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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

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosylation defects: a new mechanism for muscular dystrophy?

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The laminins

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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

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Receptors for laminin on mammalian cells

1 reference

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PubMed

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders of glycosylation: a review

1 reference

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PubMed

reference URL

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

retrieved

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

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reference URL

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

retrieved

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

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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

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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

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PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure/function studies of glycosyltransferases

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

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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

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PubMed

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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

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PubMed

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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

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12 December 2020

based on heuristic

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Membrane organization of the dystrophin-glycoprotein complex

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12 December 2020

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A role for dystroglycan in basement membrane assembly

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

retrieved

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

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PubMed

reference URL

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy

1 reference

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

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12 December 2020

based on heuristic

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Myodystrophy, a new myopathy on chromosome 8 of the mouse

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

retrieved

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

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reference URL

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

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycobiology of neuromuscular disorders

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

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12 December 2020

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Diagnostic criteria for Walker-Warburg syndrome

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

retrieved

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

stated in

PubMed

reference URL

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

retrieved

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

stated in

PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1023/B:GLYC.0000033626.65127.E4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

Dimensions Publication ID

1021600926

0 references

PubMed publication ID

15229394

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15229394

retrieved

10 August 2017

 

Sitelinks

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Retrieved from "https://www.wikidata.org/w/index.php?title=Q35824015&oldid=2197800023"