Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin (Q34171331)

31 July 2017

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin (English)

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Duchenne muscular dystrophy

31 July 2017

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Matsumura K

1

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31 July 2017

Tomé FM

2

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31 July 2017

Ionasescu V

3

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31 July 2017

Ervasti JM

4

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31 July 2017

Anderson RD

5

1 reference

31 July 2017

Romero NB

6

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31 July 2017

Simon D

7

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31 July 2017

Récan D

8

1 reference

31 July 2017

Kaplan JC

9

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31 July 2017

Fardeau M

10

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31 July 2017

language of work or name

English

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publication date

1 August 1993

1 reference

Journal of Clinical Investigation

31 July 2017

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31 July 2017

92

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31 July 2017

2

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31 July 2017

866-871

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3' untranslated regions between man and chicken

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Association of dystrophin and an integral membrane glycoprotein.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Glycoprotein complex anchoring dystrophin to sarcolemma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Purification of dystrophin from skeletal muscle.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Dystrophin-glycoprotein complex is highly enriched in isolated skeletal muscle sarcolemma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Membrane organization of the dystrophin-glycoprotein complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene--clinical features and diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Immunogold labelling of dystrophin in human muscle, using an antibody to the last 17 amino acids of the C-terminus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

An intact cysteine-rich domain is required for dystrophin function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Primary structure of dystrophin-related protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Expression of the N-terminal domain of dystrophin in E. coli and demonstration of binding to F-actin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=294925

Partial deficiency of dystrophin-associated proteins in a young girl with sporadic myopathy and normal karyotype

28 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Ultrastructural localization of dystrophin in human muscle by using gold immunolabelling

1 reference

12 December 2020

Dystrophin constitutes 5% of membrane cytoskeleton in skeletal muscle

1 reference

12 December 2020

1 reference

12 December 2020

Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain

1 reference

12 December 2020

Premature chain termination mutation causing Duchenne muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI116661

1 reference

release_bbz5k5tmfnfonoucumdmybixwq

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bbz5k5tmfnfonoucumdmybixwq

24 November 2022

mapped directly with Wikidata item

PMCID

294925

1 reference

31 July 2017

1 reference