Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies. (Q45874519)

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scientific article published on 2 April 2015

Language	Label	Description	Also known as
English	Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies.	scientific article published on 2 April 2015

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25832542%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies (English)

1 reference

Europe PubMed Central

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4 March 2020

4

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4 March 2020

author name string

J Scharner

1

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4 March 2020

N Figeac

2

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4 March 2020

J A Ellis

3

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4 March 2020

publication date

2 April 2015

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4 March 2020

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4 March 2020

22

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4 March 2020

6

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4 March 2020

503-515

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4 March 2020

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

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Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.

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Eteplirsen for the treatment of Duchenne muscular dystrophy

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"Laminopathies": a wide spectrum of human diseases

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Genotype-phenotype correlations in laminopathies: how does fate translate?

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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Broken nuclei--lamins, nuclear mechanics, and disease.

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Life at the edge: the nuclear envelope and human disease

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Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

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Tissue specificity in the nuclear envelope supports its functional complexity.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

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Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

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Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells

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https://api.crossref.org/works/10.1038%2FGT.2015.8

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Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

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Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.

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https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Defective skeletal muscle growth in lamin A/C-deficient mice is rescued by loss of Lap2α.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

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https://api.crossref.org/works/10.1038%2FGT.2015.8

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Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

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https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

A progeroid syndrome in mice is caused by defects in A-type lamins

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNA.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Systematic identification and analysis of exonic splicing silencers.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

RNAstructure: software for RNA secondary structure prediction and analysis

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Exonic sequences provide better targets for antisense oligonucleotides than splice site sequences in the modulation of Duchenne muscular dystrophy splicing

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Antisense oligonucleotide induced exon skipping and the dystrophin gene transcript: cocktails and chemistries

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Determinants for intracellular sorting of cytoplasmic and nuclear intermediate filaments

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

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A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelope

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https://api.crossref.org/works/10.1038%2FGT.2015.8

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Spliceosome-mediated RNA trans-splicing as a tool for gene therapy

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

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Overview on applications of antisense-mediated exon skipping

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https://api.crossref.org/works/10.1038%2FGT.2015.8

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A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

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Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

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https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

De novo LMNA mutations cause a new form of congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

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Uncoordinated transcription and compromised muscle function in the lmna-null mouse model of Emery- Emery-Dreyfuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FGT.2015.8

21 January 2018

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Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds

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1 reference

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1 reference

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1 reference

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