ArticleScience (New York, N.Y.)2023
USB1 is a miRNA deadenylase that regulates hematopoietic development.
Article in Science (New York, N.Y.), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre-mRNA splicing.Animal models and experimental medicine · 2026Article
- LSM7 coordinates scaRNA-mediated snRNA modification to ensure spliceosome fidelity and spermatogonial stem cell differentiation.Cell death and differentiation · 2026Article
- TUT1-catalyzed U6 snRNA 3'-end maturation is essential for RNA splicing and stem cell survival.EMBO reports · 2026Article
- Exosome-mediated decay of unstable long extended precursors of human telomerase RNA is dependent on 5'-cap trimethylation.Genes & development · 2026Article
- Induced Pluripotent Stem Cells derived CD71International journal of stem cells · 2026Article
- Widespread mono- and oligoadenylation direct small noncoding RNA maturation versus degradation fates.The EMBO journal · 2026Article
- MiRNA-based drugs: challenges and delivery strategies.Applied microbiology and biotechnology · 2025Review
- A heterozygous USB1 variant linked to immunodeficiency.Journal of human immunity · 2025Article
- Targeting HBV with RNA interference: Paths to cure.Science translational medicine · 2025Review
- The biogenesis and regulation of animal microRNAs.Nature reviews. Molecular cell biology · 2025Review
- Fine Regulation of MicroRNAs in Gene Regulatory Networks and Pathophysiology.International journal of molecular sciences · 2025Review
- miR-451a and miR-486-5p: biomarkers for benzene-induced hematotoxicity.Archives of toxicology · 2025Article
- The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.EMBO molecular medicine · 2024Article
- MicroRNAs: discovery, breakthrough, and innovation.Blood science (Baltimore, Md.) · 2024Article
- Sm complex assembly and 5' cap trimethylation promote selective processing of snRNAs by the 3' exonuclease TOE1.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- microRNAs in action: biogenesis, function and regulation.Nature reviews. Genetics · 2023Review
- miRNA-Based Technologies in Cancer Therapy.Journal of personalized medicine · 2023Review
- Target-directed microRNA degradation regulates developmental microRNA expression and embryonic growth in mammals.Genes & development · 2023Article
- Review
- Corrupted USB1 fails to process microRNAs required for blood development.Nature reviews. Genetics · 2023Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the 3' to 5' RNA exonuclease USB1 cause hematopoietic failure in poikiloderma with neutropenia (PN). Although USB1 is known to regulate U6 small nuclear RNA maturation, the molecular mechanism underlying PN remains undetermined, as pre-mRNA splicing is unaffected in patients. We generated human embryonic stem cells harboring the PN-associated mutation c.531_delA in USB1 and show that this mutation impairs human hematopoiesis. Dysregulated microRNA (miRNA) levels in USB1 mutants during blood development contribute to hematopoietic failure, because of a failure to remove 3'-end adenylated tails added by PAPD5/7. Modulation of miRNA 3'-end adenylation through genetic or chemical inhibition of PAPD5/7 rescues hematopoiesis in USB1 mutants. This work shows that USB1 acts as a miRNA deadenylase and suggests PAPD5/7 inhibition as a potential therapy for PN.
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What OpenQuestion holds
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.