(Q37919973)

25 August 2017

1 reference

title

RNA-based therapeutic approaches for coagulation factor deficiencies (English)

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25 August 2017

M Pinotti

1

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25 August 2017

F Bernardi

series ordinal

2

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25 August 2017

A Dal Mas

series ordinal

3

1 reference

25 August 2017

F Pagani

series ordinal

4

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25 August 2017

publication date

1 November 2011

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Journal of Thrombosis and Haemostasis

25 August 2017

published in

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25 August 2017

volume

9

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25 August 2017

issue

11

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25 August 2017

page(s)

2143-2152

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25 August 2017

cites work

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TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

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Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells

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Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

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Comparative analysis detects dependencies among the 5' splice-site positions

21 January 2018

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

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Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

21 January 2018

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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

21 January 2018

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Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges

21 January 2018

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Suppression of mammalian 5' splice-site defects by U1 small nuclear RNAs from a distance

21 January 2018

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Exon skipping and duchenne muscular dystrophy therapy: selection of the most active U1 snRNA antisense able to induce dystrophin exon 51 skipping

21 January 2018

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Reduction of target gene expression by a modified U1 snRNA.

21 January 2018

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Trans splicing of mRNA precursors

21 January 2018

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RNA repair using spliceosome-mediated RNA trans-splicing

21 January 2018

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Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing

21 January 2018

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Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy

21 January 2018

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RNA repair for haemophilia A.

21 January 2018

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21 January 2018

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21 January 2018

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

21 January 2018

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Translational termination comes of age.

21 January 2018

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Modulation of translation termination mechanisms by cis- and trans-acting factors

21 January 2018

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RNA sequence determinants for aminoglycoside binding to an A-site rRNA model oligonucleotide

21 January 2018

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Structural basis for selectivity and toxicity of ribosomal antibiotics

21 January 2018

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Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin

21 January 2018

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Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

21 January 2018

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Aminoglycoside suppression of nonsense mutations in severe hemophilia

21 January 2018

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A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin

21 January 2018

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Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.

21 January 2018

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Influence of codon context on UGA suppression and readthrough

21 January 2018

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The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae.

21 January 2018

1 reference

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Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

21 January 2018

1 reference

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PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

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Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

21 January 2018

1 reference

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Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04481.X

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04481.X

Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04481.X

Molecular treatments in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2011.04481.X

10.1111/J.1538-7836.2011.04481.X

21 January 2018

Identifiers

DOI

1 reference

25 August 2017

1 reference