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

Exon skipping, as a therapy to restore a reading frame or switch protein isoforms, is under clinical trial. We hypothesised that removing an in-frame exon containing a mutation could also improve pathogenic phenotypes. Our model is laminopathies: incurable tissue-specific degenerative diseases assoc...

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Veröffentlicht in:	Gene therapy 2015-06, Vol.22 (6), p.503-515
Hauptverfasser:	Scharner, J, Figeac, N, Ellis, J A, Zammit, P S
Format:	Artikel
Sprache:	eng
Schlagworte:	13 13/44 38/39 42/70 631/80 64/110 82/80 96/1 Amino acids Analysis Animals Antisense oligonucleotides Biomedical and Life Sciences Biomedicine Cell Biology Cells (Biology) Clinical trials Clonal deletion Degenerative diseases Development and progression Exon skipping Exons Exons (Molecular genetics) Gene Expression Gene mutation Gene Therapy Genetic aspects Genetic disorders Genetic Therapy Genetic Vectors Health aspects Human Genetics Isoforms Lamins Lamins - genetics Lamins - metabolism Membrane Proteins - metabolism Methods Mice, Inbred C57BL Missense mutation Molecular targeted therapy Muscular Diseases - genetics Muscular Diseases - therapy Mutants Mutation Mutation, Missense Nanotechnology Nuclear Proteins - metabolism Null cells original-article Phenotypes Properties Protein structure
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