Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy (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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16 October 2017

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Denis Furling

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16 October 2017

Frédérique Rau

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Cécile Peccate

object named as

Cécile Peccate

10

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author name string

Jeanne Lainé

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16 October 2017

Laetitita Ramanoudjame

3

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16 October 2017

Arnaud Ferry

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16 October 2017

Ludovic Arandel

5

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16 October 2017

Olivier Delalande

6

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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

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16 October 2017

Edor Kabashi

12

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16 October 2017

Takis Athanasopoulos

13

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16 October 2017

Taeyoung Koo

14

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16 October 2017

Damarys Loew

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16 October 2017

Elisabeth Le Rumeur

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16 October 2017

George Dickson

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16 October 2017

Valérie Allamand

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16 October 2017

Joëlle Marie

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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

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

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11 June 2022

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

inferred from PubMed Central ID database lookup

cites work

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Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy.

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

20 June 2018

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

20 June 2018

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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

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

20 June 2018

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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

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

20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 2018

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A muscleblind knockout model for myotonic dystrophy

20 June 2018

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Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3

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

20 June 2018

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

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

20 June 2018

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

20 June 2018

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

20 June 2018

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Dystrobrevin and dystrophin: an interaction through coiled-coil motifs

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

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

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20 June 2018

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

20 June 2018

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20 June 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

25 November 2018

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Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy

21 January 2018

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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

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12 December 2020

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

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12 December 2020

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

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12 December 2020

Defective satellite cells in congenital myotonic dystrophy

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12 December 2020

Cloning and characterization of alternatively spliced isoforms of Dp71

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12 December 2020

The ultrastructural morphology of the muscle fiber in myotonic dystrophy

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12 December 2020

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

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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

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12 December 2020

Identifiers

DOI

10.1038/NCOMMS8205

1 reference

Dimensions Publication ID

16 October 2017

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0 references

1 reference

16 October 2017

PubMed publication ID

26018658

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