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

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4 March 2020

title

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

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4 March 2020

4

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4 March 2020

author name string

J Scharner

series ordinal

1

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4 March 2020

N Figeac

series ordinal

2

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4 March 2020

J A Ellis

series ordinal

3

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publication date

2 April 2015

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4 March 2020

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4 March 2020

volume

22

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4 March 2020

issue

6

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4 March 2020

page(s)

503-515

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

4 March 2020

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

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

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

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Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins

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

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The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

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12 December 2020

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

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12 December 2020

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

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12 December 2020

Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna R298C/R298C

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12 December 2020

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype

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12 December 2020

Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction

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The role of sequences unique to nuclear intermediate filaments in the targeting and assembly of human lamin B: evidence for lack of interaction of lamin B with its putative receptor.

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12 December 2020