(Q24321993)

English

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

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scholarly article

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A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity (English)

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1 reference

GOA release 2020-03-11

structural constituent of muscle

1 reference

GOA release 2020-03-11

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based on heuristic

inferred from title

Francesco Muntoni

19

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Cecilia Jimenez-Mallebrera

1

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Haluk Topaloglu

13

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9

object named as

Susan C Brown

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Kevin P Campbell

object named as

Kevin P Campbell

10

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author name string

Silvia Torelli

2

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Lucy Feng

3

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Jihee Kim

4

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Caroline Godfrey

5

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Emma Clement

6

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Rachael Mein

7

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Stephen Abbs

8

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Stephan Kröger

11

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Beril Talim

12

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Ros Quinlivan

14

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Helen Roper

15

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Anne M Childs

16

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Maria Kinali

17

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Caroline A Sewry

18

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language of work or name

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publication date

October 2009

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Brain Pathology

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19

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4

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596-611

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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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

Form and function: the laminin family of heterotrimers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

Identification and characterization of the dystrophin anchoring site on beta-dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

Brain alpha-dystroglycan displays unique glycoepitopes and preferential binding to laminin-10/11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

19 March 2017

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Fukutin and alpha-dystroglycanopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Dystroglycan: from biosynthesis to pathogenesis of human disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Congenital muscular dystrophy: molecular and cellular aspects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

The effects of post-translational processing on dystroglycan synthesis and trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Defective glycosylation in muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Differential Vicia villosa agglutinin reactivity identifies three distinct dystroglycan complexes in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

The complexities of dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

alpha-dystroglycan isoforms are differentially distributed in adult rat retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

27 September 2017

Expanding the clinical spectrum of POMT1 phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

30 May 2018

POMT2 mutation in a patient with 'MEB-like' phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

30 May 2018

Effects of fukutin deficiency in the developing mouse brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

30 May 2018

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

30 May 2018

Dystrophic phenotype induced in vitro by antibody blockade of muscle alpha-dystroglycan-laminin interaction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

30 May 2018

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2008.00198.X

21 January 2018

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

Direct interaction of beta-dystroglycan with F-actin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

Inhibition of dystroglycan cleavage causes muscular dystrophy in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860390

29 November 2018

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18691338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of basement membrane, receptor and cytoskeletal lattices in a laminin-deficient muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18691338

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18691338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of dystroglycan: processing of a precursor propeptide

1 reference

https://pubmed.ncbi.nlm.nih.gov/18691338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1750-3639.2008.00198.X

0 references

release_qa2ksbh4avecporornhxx6jwei

1 reference

https://api.fatcat.wiki/v0/release/qa2ksbh4avecporornhxx6jwei

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

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PubMed publication ID

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