In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs. (Q38314019)

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scientific article published on 07 August 2013

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English	In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.	scientific article published on 07 August 2013

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5 March 2020

In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs (English)

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5 March 2020

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5 March 2020

María Goicoechea Bianchi

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5 March 2020

Juan Valcárcel

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5 March 2020

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5 March 2020

Adolfo López de Munain

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5 March 2020

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Ana Aiastui

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5 March 2020

Mafalda Martins de Araujo

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5 March 2020

Aurélie Avril

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5 March 2020

Cyriaque Beley

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5 March 2020

Luis García

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5 March 2020

publication date

7 August 2013

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5 March 2020

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5 March 2020

34

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5 March 2020

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5 March 2020

1387-1395

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5 March 2020

Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges

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Mechanisms of alternative pre-messenger RNA splicing

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ESEfinder: A web resource to identify exonic splicing enhancers

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Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

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21 January 2018

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22379

21 January 2018

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

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21 January 2018

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

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21 January 2018

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

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Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3

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21 January 2018

Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle

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21 January 2018

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

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21 January 2018

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

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21 January 2018

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

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21 January 2018

Transcriptional and translational effects of intronic CAPN3 gene mutations

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Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles.

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U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy

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Exon definition may facilitate splice site selection in RNAs with multiple exons

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Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

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Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

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