(Q30496276)

19 October 2017

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. (English)

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19 October 2017

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Amanda J Ward

1

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author name string

Mendell Rimer

2

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19 October 2017

James M Killian

3

1 reference

19 October 2017

James J Dowling

4

1 reference

19 October 2017

Thomas A Cooper

5

1 reference

19 October 2017

5 July 2010

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19 October 2017

Human Molecular Genetics

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19 October 2017

19

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19 October 2017

18

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19 October 2017

3614-3622

1 reference

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

19 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Conserved GU-rich elements mediate mRNA decay by binding to CUG-binding protein 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

A muscleblind knockout model for myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Decreased insulin sensitivity of forearm muscle in myotonic dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928132

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

20 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ277

Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ277

MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ277

Defective neuromuscular synaptogenesis in mice expressing constitutively active ErbB2 in skeletal muscle fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ277

Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ277

A 10-year study of mortality in a cohort of patients with myotonic dystrophy

21 January 2018

1 reference

12 December 2020

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

1 reference

12 December 2020

Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy

1 reference

12 December 2020

Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1

1 reference

12 December 2020

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

12 December 2020

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

1 reference

12 December 2020

Defective satellite cells in congenital myotonic dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ277

1 reference

release_fisoa6775zfczg5kzmkwhoc5am

19 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fisoa6775zfczg5kzmkwhoc5am

24 November 2022

mapped directly with Wikidata item

1 reference

19 October 2017

1 reference