Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies (Q38584853)

4 September 2017

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies (English)

1 reference

4 September 2017

Susan C Brown

1

1 reference

4 September 2017

Silvia Torelli

2

1 reference

4 September 2017

Martin Brockington

3

1 reference

4 September 2017

Yeliz Yuva

4

1 reference

4 September 2017

Cecilia Jimenez

5

1 reference

4 September 2017

Lucy Feng

6

1 reference

4 September 2017

Louise Anderson

7

1 reference

4 September 2017

Isabella Ugo

8

1 reference

4 September 2017

Stephan Kroger

9

1 reference

4 September 2017

Kate Bushby

10

1 reference

4 September 2017

Thomas Voit

11

1 reference

4 September 2017

Caroline Sewry

12

1 reference

4 September 2017

Francesco Muntoni

13

1 reference

4 September 2017

language of work or name

English

0 references

publication date

1 February 2004

1 reference

The American Journal of Pathology

4 September 2017

1 reference

4 September 2017

164

1 reference

4 September 2017

2

1 reference

4 September 2017

727-737

1 reference

Functional requirements for fukutin-related protein in the Golgi apparatus

4 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Matrix assembly, regulation, and survival functions of laminin and its receptors in embryonic stem cell differentiation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Function and genetics of dystrophin and dystrophin-related proteins in muscle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

The complexities of dystroglycan

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

The small leucine-rich repeat proteoglycan biglycan binds to alpha-dystroglycan and is upregulated in dystrophic muscle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Sarcoglycans in muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Inherited disorders of the extracellular matrix

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Dystroglycan inside and out.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Laminin polymerization induces a receptor-cytoskeleton network

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Non-muscle alpha-dystroglycan is involved in epithelial development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Distinct roles for dystroglycan, beta1 integrin and perlecan in cell surface laminin organization.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Anomalous dystroglycan in carcinoma cell lines.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

alpha-dystroglycan isoforms are differentially distributed in adult rat retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Dystrophin-associated glycoproteins: their possible roles in the pathogenesis of Duchenne muscular dystrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1602276

Biosynthesis of dystroglycan: processing of a precursor propeptide

31 August 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963160-4

A role for dystroglycan in basement membrane assembly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963160-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963160-4

An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963160-4

Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963160-4

Interactions between dystrophin and the sarcolemma membrane

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14742276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S0002-9440(10)63160-4

1 reference

release_e3wbv4e2dvgnhluqqzvvddkibm

4 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e3wbv4e2dvgnhluqqzvvddkibm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

4 September 2017

1 reference