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Article

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

Human molecular genetics - 1 Jun 2012

Fernandez Alanis Eugenio, Pinotti Mirko, Dal Mas Andrea, Balestra Dario, Cavallari Nicola, Rogalska Malgorzata E, Bernardi Francesco, Pagani Franco

Abstract excerpt

A significant proportion of disease-causing mutations affect precursor-mRNA splicing, inducing skipping of the exon from the mature transcript. Using F9 exon 5, CFTR exon 12 and SMN2 exon 7 models, we characterized natural mutations associated to exon skipping in Haemophilia B, cystic fibrosis and spinal muscular atrophy (SMA), respectively, and the therapeutic splicing rescue by using U1 small nuclear RNA...

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Share to Alternative Splicing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22362925
DOI: 10.1093/hmg/dds045
PMCID: PMC3349419

Genes

CFTR
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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