(Q34597868)

3 August 2017

title

Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy (English)

1 reference

3 August 2017

1 reference

Janet E Davies

1

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3 August 2017

David C Rubinsztein

series ordinal

2

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3 August 2017

publication date

3 January 2011

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3 August 2017

published in

Human Molecular Genetics

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3 August 2017

volume

20

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3 August 2017

issue

6

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3 August 2017

page(s)

1154-1163

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Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

7 July 2018

1 reference

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7 July 2018

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Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy

7 July 2018

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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

7 July 2018

1 reference

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NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies

7 July 2018

1 reference

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A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1.

7 July 2018

1 reference

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Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Bcl-2 overexpression prevents calcium overload and subsequent apoptosis in dystrophic myotubes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice

7 July 2018

1 reference

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Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy

7 July 2018

1 reference

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A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes

7 July 2018

1 reference

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Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

7 July 2018

1 reference

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Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Consequences of the t(14;18) chromosomal translocation in follicular lymphoma: deregulated expression of a chimeric and mutated BCL-2 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Further observations on the pathological responses of rat skeletal muscle to toxins isolated from the venom of the Australian tiger snake, Notechis scutatus scutatus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Apoptosis precedes necrosis of dystrophin-deficient muscle

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3043663

Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease

9 December 2018

1 reference

12 December 2020

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

1 reference

12 December 2020

Nuclear inclusions in oculopharyngeal dystrophy

1 reference

12 December 2020

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement

1 reference

12 December 2020

Myosatellite cells, growth, and regeneration in murine dystrophic muscle: a quantitative study

1 reference

12 December 2020

DNA-fragmentation and expression of apoptosis-related proteins in muscular dystrophies

1 reference

12 December 2020

Dystrophin deficient myotubes undergo apoptosis in mouse primary muscle cell culture after DNA damage

1 reference

12 December 2020

Activation of caspase-3 apoptotic pathways in skeletal muscle fibers in laminin alpha2-deficient mice

1 reference

12 December 2020

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

1 reference

12 December 2020

Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice

1 reference

12 December 2020

Activation of caspase 3, 9, 12, and Bax in masseter muscle of mdx mice during necrosis

1 reference

12 December 2020

Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ559

1 reference

3 August 2017

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3 August 2017

1 reference