Present and future of antisense therapy for splicing modulation in inherited metabolic disease (Q37767638)

22 August 2017

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title

Present and future of antisense therapy for splicing modulation in inherited metabolic disease (English)

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22 August 2017

4

Daniel Grinberg

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22 August 2017

Belen Pérez

1

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22 August 2017

Laura Rodríguez-Pascau

2

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22 August 2017

Luisa Vilageliu

3

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22 August 2017

Magdalena Ugarte

5

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22 August 2017

Lourdes R Desviat

6

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22 August 2017

publication date

25 June 2010

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Journal of Inherited Metabolic Disease

22 August 2017

published in

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22 August 2017

volume

33

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22 August 2017

issue

4

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22 August 2017

page(s)

397-403

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9135-1

22 August 2017

exact match

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Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

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Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides

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Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex

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Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

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Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

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12 December 2020

Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons

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12 December 2020

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The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

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12 December 2020

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

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12 December 2020

10.1007/S10545-010-9135-1

Identifiers

DOI

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22 August 2017

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