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Article

Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.

Human molecular genetics - 1 Jun 2010

Mende Ylva, Jakubik Miriam, Riessland Markus, Schoenen Frank, Rossbach Kristina, Kleinridders André, Köhler Christoph, Buch Thorsten, Wirth Brunhilde

Abstract excerpt

The SR-like splicing factor SFRS10 (Htra2-beta1) is well known to influence various alternatively spliced exons without being an essential splicing factor. We have shown earlier that SFRS10 binds SMN1/SMN2 RNA and restores full-length (FL)-SMN2 mRNA levels in vitro. As SMN1 is absent in patients with spinal muscular atrophy (SMA), the level of FL-SMN2 determines the disease severity. Correct splicing of SMN2 can...

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Source

Identifiers

PMID: 20190275
DOI: 10.1093/hmg/ddq094

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.PMID 20190275Read ↗

Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy.Semantic proximity Read ↗

The Regulation and Regulatory Activities of Alternative Splicing of the SMN GeneSemantic proximity Read ↗

Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular AtrophySemantic proximity Read ↗

SRSF6 and SRSF1 coordinately enhance the inclusion of human MUSK exon 10 to generate a Wnt-sensitive MuSK isoformSemantic proximity Read ↗

Htra2-β 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 ( SMN2 )Semantic proximity Read ↗

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