ArticleThe Journal of clinical investigation2019
Hotspot SF3B1 mutations induce metabolic reprogramming and vulnerability to serine deprivation.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 68 citations in OpenAlex.
- From silos to synergy: the interdisciplinary discovery potential in redefining polyendocrine metabolic ovarian syndrome.The Journal of clinical investigation · 2026Article
- Variant-specific SF3B1 mutations drive distinct splicing and mitochondrial dysfunction in myelodysplastic neoplasms.Human genomics · 2026Article
- Spliceosomal mutation drives melanoma tumorigenesis via lineage-specific RAS activation.Science advances · 2026Article
- PHGDH at the crossroads: metabolic plasticity, metastatic paradoxes, and therapeutic reconnaissance in cancer.Journal of biomedical science · 2026Review
- Distinct and convergent effects ofProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- Elevated BBlood neoplasia · 2025Article
- Serine auxotrophy is a targetable vulnerability driven by PSAT1 suppression in AML.bioRxiv : the preprint server for biology · 2025Article
- Identification of nonsense-mediated decay inhibitors that alter the tumor immune landscape.eLife · 2025Article
- Genome sequencing in the management of myelodysplastic syndromes and related disorders.Haematologica · 2025Review
- Implications for metabolic disturbances in myelodysplastic syndromes.Seminars in hematology · 2024Review
- Engineering Oncogenic Hotspot Mutations on SF3B1 via CRISPR-Directed PRECIS Mutagenesis.Cancer research communications · 2024Article
- ASCT2 is a major contributor to serine uptake in cancer cells.Cell reports · 2024Article
- The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.Blood advances · 2024Article
- Genomic dissection and mutation-specific target discovery for breast cancer PIK3CA hotspot mutations.BMC genomics · 2024Article
- Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation.Nature communications · 2024Article
- Article
- Expression of circular RNAs in myelodysplastic neoplasms and their association with mutations in the splicing factor gene SF3B1.Molecular oncology · 2023Article
- Article
- ASCT2 is the primary serine transporter in cancer cells.bioRxiv : the preprint server for biology · 2023Article
Corrections and comments
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Authors and funding
32 authors at 8 institutions in 4 countries.
Funding
Abstract
Cancer-associated mutations in the spliceosome gene SF3B1 create a neomorphic protein that produces aberrant mRNA splicing in hundreds of genes, but the ensuing biologic and therapeutic consequences of this missplicing are not well understood. Here we have provided evidence that aberrant splicing by mutant SF3B1 altered the transcriptome, proteome, and metabolome of human cells, leading to missplicing-associated downregulation of metabolic genes, decreased mitochondrial respiration, and suppression of the serine synthesis pathway. We also found that mutant SF3B1 induces vulnerability to deprivation of the nonessential amino acid serine, which was mediated by missplicing-associated downregulation of the serine synthesis pathway enzyme PHGDH. This vulnerability was manifest both in vitro and in vivo, as dietary restriction of serine and glycine in mice was able to inhibit the growth of SF3B1MUT xenografts. These findings describe a role for SF3B1 mutations in altered energy metabolism, and they offer a new therapeutic strategy against SF3B1MUT cancers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.