Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes.

doi:10.1038/s41467-018-04110-1

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Article

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes.

Nature communications - 23 May 2018

Garcia-Lopez Amparo, Tessaro Francesca, Jonker Hendrik R A, Wacker Anna, Richter Christian, Comte Arnaud, Berntenis Nikolaos, Schmucki Roland, Hatje Klas, Petermann Olivier, Chiriano Gianpaolo, Perozzo Remo, Sciarra Daniel, Konieczny Piotr, Faustino Ignacio, Fournet Guy, Orozco Modesto, Artero Ruben, Metzger Friedrich, Ebeling Martin, Goekjian Peter, Joseph Benoît, Schwalbe Harald, Scapozza Leonardo

Abstract excerpt

Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel therapies with improved mechanistic insight. Here, we chose as a target the stem-loop RNA structure TSL2, which overlaps with the 5' splicing site of E7. A...

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Identifiers

PMID: 29795225
DOI: 10.1038/s41467-018-04110-1
PMCID: PMC5966403

Genes

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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