(Q38314019)

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

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

María Goicoechea Bianchi

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Juan Valcárcel

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Adolfo López de Munain

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

author name string

Ana Aiastui

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Mafalda Martins de Araujo

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Aurélie Avril

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Cyriaque Beley

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Luis García

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

publication date

7 August 2013

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

34

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1387-1395

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23864287%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

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

1 reference

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

21 January 2018

Mechanisms of alternative pre-messenger RNA splicing

1 reference

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

21 January 2018

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

1 reference

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

21 January 2018

Increased in vivo inhibition of gene expression by combining RNA interference and U1 inhibition.

1 reference

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

21 January 2018

U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping

1 reference

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

21 January 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

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

21 January 2018

Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts

1 reference

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

21 January 2018

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy

1 reference

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

21 January 2018

Characterization of a new p94-like calpain form in human lymphocytes

1 reference

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

21 January 2018

Chimeric adeno-associated virus/antisense U1 small nuclear RNA effectively rescues dystrophin synthesis and muscle function by local treatment of mdx mice

1 reference

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

21 January 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

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

21 January 2018

Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.

1 reference

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

21 January 2018

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

1 reference

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

21 January 2018

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

1 reference

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

21 January 2018

Inhibiting expression of specific genes in mammalian cells with 5' end-mutated U1 small nuclear RNAs targeted to terminal exons of pre-mRNA.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice

1 reference

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

21 January 2018

Systemic administration of PRO051 in Duchenne's muscular dystrophy

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

1 reference

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

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

1 reference

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

21 January 2018

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

1 reference

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

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Transcriptional and translational effects of intronic CAPN3 gene mutations

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

1 reference

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

21 January 2018

The special Sm core structure of the U7 snRNP: far-reaching significance of a small nuclear ribonucleoprotein

1 reference

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

21 January 2018

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

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

21 January 2018

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

1 reference

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

21 January 2018

ASD: a bioinformatics resource on alternative splicing

1 reference

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

21 January 2018

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

1 reference

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

21 January 2018

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping.

1 reference

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

21 January 2018

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

1 reference

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

21 January 2018

Spliceosome Structure and Function

1 reference

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

21 January 2018

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Newly identified exons encoding novel variants of p94/calpain 3 are expressed ubiquitously and overlap the alpha-glucosidase C gene

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Transcriptional explorations ofCAPN3identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

1 reference

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

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q38314019&oldid=1509682037"