(Q55087601)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences (English)

1 reference

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27 March 2020

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Chantal Sellier

1 reference

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27 March 2020

Estefanía Cerro-Herreros

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Markus Blatter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Fernande Freyermuth

1 reference

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27 March 2020

Angeline Gaucherot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Frank Ruffenach

1 reference

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27 March 2020

Partha Sarkar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jack Puymirat

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Bjarne Udd

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

John W Day

1 reference

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27 March 2020

Giovanni Meola

1 reference

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27 March 2020

Guillaume Bassez

1 reference

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27 March 2020

Harutoshi Fujimura

1 reference

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27 March 2020

Masanori P Takahashi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Benedikt Schoser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Frédéric H T Allain

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Beatriz Llamusi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

language of work or name

English

0 references

publication date

22 May 2018

1 reference

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27 March 2020

published in

Nature Communications

1 reference

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27 March 2020

volume

1 reference

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27 March 2020

issue

1 reference

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27 March 2020

page(s)

2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

27 March 2020

start time

22 May 2018

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain

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19 June 2018

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30 November 2018

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7 January 2021

The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function

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Rbfox2-coordinated alternative splicing of Mef2d and Rock2 controls myoblast fusion during myogenesis

19 June 2018

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HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism

19 June 2018

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19 June 2018

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Compound loss of muscleblind-like function in myotonic dystrophy

19 June 2018

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Splicing biomarkers of disease severity in myotonic dystrophy

19 June 2018

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Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy

19 June 2018

1 reference

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The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

19 June 2018

1 reference

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Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel

19 June 2018

1 reference

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RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2

19 June 2018

1 reference

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Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

19 June 2018

1 reference

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The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

19 June 2018

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Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms

19 June 2018

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Non-ATG-initiated translation directed by microsatellite expansions

19 June 2018

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Pentamidine reverses the splicing defects associated with myotonic dystrophy.

19 June 2018

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Identification of neuronal nuclei (NeuN) as Fox-3, a new member of the Fox-1 gene family of splicing factors

19 June 2018

1 reference

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Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

19 June 2018

1 reference

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Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients

19 June 2018

1 reference

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An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells

19 June 2018

1 reference

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

19 June 2018

1 reference

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Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2.

19 June 2018

1 reference

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Genetic and chemical modifiers of a CUG toxicity model in Drosophila

19 June 2018

1 reference

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19 June 2018

1 reference

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Molecular basis of RNA recognition by the human alternative splicing factor Fox-1

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Myotonic dystrophy type 2 and related myotonic disorders

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Muscleblind proteins regulate alternative splicing

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

A muscleblind knockout model for myotonic dystrophy

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Reduced mobility of the alternate splicing factor (ASF) through the nucleoplasm and steady state speckle compartments

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

High mobility of proteins in the mammalian cell nucleus

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Myotonic dystrophy: candidate small molecule therapeutics

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Myotonic dystrophy type 2 (DM2) and related disorders

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

Muscle pathology in 57 patients with myotonic dystrophy type 2

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5964235

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

30 November 2018

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-04370-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-04370-X

7 January 2021

Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-04370-X

7 January 2021

Absence of a differentiation defect in muscle satellite cells from DM2 patients

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-04370-X

7 January 2021

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-04370-X

7 January 2021

Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-04370-X

7 January 2021

In vitro synthesis and cloning of long CAG repeats

1 reference

https://api.crossref.org/works/10.1038%2FS41467-018-04370-X

7 January 2021

10.1038/S41467-018-04370-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

27 March 2020

ADS bibcode

2018NatCo...9.2009S

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

PubMed publication ID

29789616

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29789616%20AND%20SRC:MED&resulttype=core&format=json