(Q34984541)

5 August 2017

title

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy (English)

1 reference

5 August 2017

1 reference

Rahul N Kanadia

1

1 reference

5 August 2017

Jihae Shin

2

1 reference

5 August 2017

Yuan Yuan

3

1 reference

5 August 2017

Stuart G Beattie

4

1 reference

5 August 2017

Thurman M Wheeler

5

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5 August 2017

Charles A Thornton

6

1 reference

5 August 2017

Maurice S Swanson

7

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5 August 2017

language of work or name

English

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publication date

24 July 2006

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Proceedings of the National Academy of Sciences of the United States of America

5 August 2017

published in

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5 August 2017

volume

103

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5 August 2017

issue

31

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5 August 2017

page(s)

11748-11753

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

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

The structural basis of myotonic dystrophy from the crystal structure of CUG repeats

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Mutations in ZASP define a novel form of muscular dystrophy in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Pathogenic RNA repeats: an expanding role in genetic disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Muscleblind proteins regulate alternative splicing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Toxic RNA in the nucleus: unstable microsatellite expression in neuromuscular disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Cellular and molecular regulation of muscle regeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

A muscleblind knockout model for myotonic dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

RNA structure of trinucleotide repeats associated with human neurological diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Novel tools for production and purification of recombinant adeno-associated viral vectors.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Development and optimization of a real-time quantitative PCR-based method for the titration of AAV-2 vector stocks

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Blind deconvolution of 3D transmitted light brightfield micrographs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1544241

Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.

8 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0604970103

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0604970103

Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0604970103

Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice1Part of this work was presented at the meeting of the German Physiological Society in Rostock, March 1997.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0604970103

RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0604970103

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

21 January 2018

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

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

1 reference

12 December 2020

CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins

1 reference

12 December 2020

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0604970103

1 reference

5 August 2017

0 references

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5 August 2017

1 reference