Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy (Q36690402)

15 August 2017

Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy (English)

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15 August 2017

Pierre Joanne

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Christophe Hourdé

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Christophe Hourdé

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Onnik Agbulut

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Onnik Agbulut

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Gillian Butler-Browne

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Gillian Butler-Browne

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author name string

Oussama Chourbagi

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15 August 2017

Arnaud Ferry

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15 August 2017

Patrick Vicart

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15 August 2017

Julie Dumonceaux

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15 August 2017

20 February 2013

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15 August 2017

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describes a project that uses

15 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3599656/fullTextXML

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cites work

Impaired adaptive response to mechanical overloading in dystrophic skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.

30 September 2017

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AAV-tau mediates pyramidal neurodegeneration by cell-cycle re-entry without neurofibrillary tangle formation in wild-type mice

30 September 2017

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Mutation in BAG3 causes severe dominant childhood muscular dystrophy

30 September 2017

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Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

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

30 September 2017

1 reference

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Adeno-associated virus-mediated delivery of a mutant endostatin suppresses ovarian carcinoma growth in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

30 September 2017

1 reference

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Mutations in myotilin cause myofibrillar myopathy

30 September 2017

1 reference

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Lower active force generation and improved fatigue resistance in skeletal muscle from desmin deficient mice.

30 September 2017

1 reference

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Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

30 September 2017

1 reference

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Desmin mutation responsible for idiopathic dilated cardiomyopathy

30 September 2017

1 reference

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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Intermediate filaments: structure, dynamics, function, and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Specific attachment of desmin filaments to desmosomal plaques in cardiac myocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Expression of slow myosin heavy chain during muscle regeneration is not always dependent on muscle innervation and calcineurin phosphatase activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

The morphology of regeneration of skeletal muscles in the rat.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Long-term expression and repeated administration of AAV type 1, 2 and 5 vectors in skeletal muscle of immunocompetent adult mice

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Recovery of slow skeletal muscle after injury in the senescent rat

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Mouse model of desmin-related cardiomyopathy.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599656

In Vivo Characterization of Mutant Myotilins

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F2044-5040-3-4

Comparison of nonviral transfection and adeno-associated viral transduction on cardiomyocytes

21 January 2018

1 reference

12 December 2020

The cytoskeleton of the vertebrate smooth muscle cell

1 reference

12 December 2020

Differential effects of post-natal development, animal strain and long term recovery on the restoration of neuromuscular function after neuromyotoxic injury in rat

1 reference

12 December 2020

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria

1 reference

12 December 2020

Identifiers

DOI

10.1186/2044-5040-3-4

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

23425003

1 reference