(Q30653577)

16 October 2017

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy (English)

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16 October 2017

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11

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16 October 2017

16

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16 October 2017

21

Denis Furling

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16 October 2017

Frédérique Rau

1

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Cécile Peccate

object named as

Cécile Peccate

10

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author name string

Jeanne Lainé

2

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16 October 2017

Laetitita Ramanoudjame

3

1 reference

16 October 2017

Arnaud Ferry

4

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16 October 2017

Ludovic Arandel

5

1 reference

16 October 2017

Olivier Delalande

6

1 reference

16 October 2017

Arnaud Jollet

7

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16 October 2017

Florent Dingli

8

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16 October 2017

Kuang-Yung Lee

9

1 reference

16 October 2017

Edor Kabashi

12

1 reference

16 October 2017

Takis Athanasopoulos

13

1 reference

16 October 2017

Taeyoung Koo

14

1 reference

16 October 2017

Damarys Loew

15

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16 October 2017

Elisabeth Le Rumeur

17

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16 October 2017

George Dickson

18

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16 October 2017

Valérie Allamand

19

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16 October 2017

Joëlle Marie

20

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16 October 2017

language of work or name

English

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publication date

28 May 2015

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16 October 2017

Nature Communications

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16 October 2017

6

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16 October 2017

7205

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Creative Commons Attribution 4.0 International

16 October 2017

start time

28 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4458869/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Compound loss of muscleblind-like function in myotonic dystrophy

1 reference

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Identification of new dystroglycan complexes in skeletal muscle

20 June 2018

1 reference

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Splicing biomarkers of disease severity 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=4458869

Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism 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=4458869

PEP-FOLD: an updated de novo structure prediction server for both linear and disulfide bonded cyclic peptides.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

The dystrophin-glycoprotein complex in the prevention of muscle damage

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness 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=4458869

Delivery of AAV2/9-microdystrophin genes incorporating helix 1 of the coiled-coil motif in the C-terminal domain of dystrophin improves muscle pathology and restores the level of α1-syntrophin and α-dystrobrevin in skeletal muscles of mdx mice.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

CUGBP1 overexpression in mouse skeletal muscle reproduces features 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=4458869

Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular 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=4458869

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=4458869

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=4458869

The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Recombinant adeno-associated viral (rAAV) vectors as therapeutic tools for Duchenne muscular dystrophy (DMD).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

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=4458869

Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

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=4458869

The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Electrostatics of nanosystems: application to microtubules and the ribosome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

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=4458869

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Disruption of splicing regulated by a CUG-binding protein 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=4458869

Dystrophins in vertebrates and invertebrates

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Dystrobrevin and dystrophin: an interaction through coiled-coil motifs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

An unstable triplet repeat in a gene related to myotonic muscular 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=4458869

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=4458869

Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain.

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8205

Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8205

Codon optimization of the microdystrophin gene for Duchene muscular dystrophy gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8205

Long-term functional adeno-associated virus-microdystrophin expression in the dystrophic CXMDj dog.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8205

PLATINUM: a web tool for analysis of hydrophobic/hydrophilic organization of biomolecular complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8205

Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4458869

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

25 November 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS8205

Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy

21 January 2018

1 reference

12 December 2020

Codon and mRNA Sequence Optimization of Microdystrophin Transgenes Improves Expression and Physiological Outcome in Dystrophic mdx Mice Following AAV2/8 Gene Transfer

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

Cloning and characterization of alternatively spliced isoforms of Dp71

1 reference

12 December 2020

The ultrastructural morphology of the muscle fiber in myotonic dystrophy

1 reference

12 December 2020

The histographic analysis of human muscle biopsies with regard to fiber types: 3. Myotonias, myasthenia gravis, and hypokalemic periodic paralysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/NCOMMS8205

1 reference

Dimensions Publication ID

16 October 2017

0 references

0 references

1 reference

16 October 2017

PubMed publication ID

26018658

1 reference