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Article

A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs.

Human gene therapy - 1 Jan 2013

Schmid Fabian, Hiller Thomas, Korner Germaine, Glaus Esther, Berger Wolfgang, Neidhardt John

Abstract excerpt

Splicing is an essential cellular process to generate mature transcripts from pre-mRNA. It requires the splice factor U1 small nuclear ribonucleoprotein (U1), which promotes exon recognition by base-pairing interaction with the splice donor site (SD). After U1 dissociation, exon recognition is maintained by U6 small nuclear ribonucleoproteins (U6). It has been shown that SD mutations lower the binding affinity of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23075156
DOI: 10.1089/hum.2012.110

Genes

BBS1

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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