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Article

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms.

Leukemia - 1 Nov 2025

Thier Jonas, Hofmann Sophia, Kirchhof Katharina M, Todisco Gabriele, Mortera-Blanco Teresa, Lilienthal Ingrid, Kanellis Dimitris C, Barbosa Indira, Björklund Ann-Charlotte, Deslauriers André G, Bartek Jiri, Herold Nikolas, Papaemmanuil Elli, Papapetrou Eirini P, Hellström-Lindberg Eva, Moura Pedro L, Lundin Vanessa

Abstract excerpt

Myelodysplastic syndromes with somatic mutations in the splicing factor SF3B1 gene (MDS-SF3B1) result in RNA mis-splicing, erythroid dysplasia and ultimately refractory anemia. Precision medicine approaches for MDS-SF3B1 remain challenging due to both the complexity of the mis-splicing landscape and its evaluation in disease-accurate models. To uncover novel RNA mis-splicing events, isogenic SF3B1K700E and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40858805
DOI: 10.1038/s41375-025-02740-1
PMCID: PMC12589102

Genes

SF3B1
UBA1
CD34

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms.PMID 40858805Read ↗

<i>SF3B1</i> -mutant mis-splicing of <i>UBA1</i> confers a targetable therapeutic vulnerability through UBA1 inhibitionSemantic proximity Read ↗

Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs.Semantic proximity Read ↗

SF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.Semantic proximity Read ↗

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.Semantic proximity Read ↗

Single-cell multi-omics defines the cell-type specific impact of splicing aberrations in human hematopoietic clonal outgrowthsSemantic proximity Read ↗

RNA splicing as a therapeutic target in myelodysplastic syndromes.Semantic proximity Read ↗

SF3B1 mutations in myelodysplastic syndromes: A potential therapeutic target for modulating the entire disease processSemantic proximity Read ↗

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Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.Semantic proximity Read ↗

Splicing factor mutations in the myelodysplastic syndromes: Role of key aberrantly spliced genes in disease pathophysiology and treatment.Semantic proximity Read ↗

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromesSemantic proximity Read ↗

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