Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing (Q24301335)

CUGBP Elav-like family member 1

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Muscleblind like splicing regulator 2

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Heterogeneous nuclear ribonucleoprotein H1

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regulation of RNA splicing

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author name string

Sharan Paul

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Warunee Dansithong

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Dongho Kim

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John Rossi

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Nicholas J G Webster

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Lucio Comai

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Sita Reddy

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

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language of work or name

English

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publication date

20 September 2006

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4271-83

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

Muscleblind proteins regulate alternative splicing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

A muscleblind knockout model for myotonic dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic 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=1570429

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

Disruption of splicing regulated by a CUG-binding protein in myotonic 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=1570429

Identification of intron and exon sequences involved in alternative splicing of insulin receptor pre-mRNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic 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=1570429

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

An unstable triplet repeat in a gene related to myotonic 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=1570429

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1570429

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

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FSJ.EMBOJ.7601296

Alternative splicing of human insulin receptor messenger RNA.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FSJ.EMBOJ.7601296

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FSJ.EMBOJ.7601296

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16946708

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16946708

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16946708

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/SJ.EMBOJ.7601296

1 reference

1 reference

1 reference

PubMed publication ID

16946708

1 reference