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Neurodegenerative spliceosomopathies [PDF]
Frontiers in Cell and Developmental BiologySpliceosomal syndromes are a group of disorders caused by pathogenic variants in core spliceosomal RNAs or proteins, leading to defective pre-mRNA splicing and tissue-specific disease vulnerability. Although the spliceosome is ubiquitously expressed, its
A. Mavillonio +3 more
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Direct and indirect effects of spliceosome disruption compromise gene regulation by nonsense-mediated mRNA decay [PDF]
RNA BiologyPre-mRNA splicing, carried out in the nucleus by a large ribonucleoprotein machine known as the spliceosome, is functionally and physically coupled to the mRNA surveillance pathway in the cytoplasm called nonsense-mediated mRNA decay (NMD).
Caleb M. Embree +3 more
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Unlocking the undruggable spliceosome: generative AI and structural dynamics in cancer therapy [PDF]
Frontiers in Cell and Developmental BiologyThe spliceosome is a dynamic molecular machine essential for transcriptome diversity, yet its complexity creates specific vulnerabilities in cancer. Recurrent somatic mutations in core factors, particularly SF3B1, U2AF1, and SRSF2, drive malignancies by ...
Jakob Steuer +3 more
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Spliceosome inhibition induces Z-RNA and ZBP1-driven cell death in small cell lung cancer [PDF]
Cell ReportsSummary: Spliceosome inhibitors emerged as promising anticancer agents. Recent studies have demonstrated that spliceosome-targeted therapies (STTs) trigger antitumor immune responses by inducing the accumulation of right-handed double-stranded (ds)RNA (A-
Xinpei Jiang +7 more
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iScience, 2023 Summary: Ribonucleoprotein (RNP) condensates are crucial for controlling RNA metabolism and splicing events in animal cells. We used spatial proteomics and transcriptomic to elucidate RNP interaction networks at the centrosome, the main microtubule ...
Luigi Cerulo +11 more
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psiCLIP reveals dynamic RNA binding by DEAH-box helicases before and after exon ligation
Nature Communications, 2021 ATP-dependent helicases remodel the spliceosome and proofread splice site recognition. A new method – Purified Spliceosome iCLIP (psiCLIP) – probes protein-RNA interactions in defined spliceosome complexes to reveal how the helicases Prp16 and Prp22 ...
Lisa M. Strittmatter +9 more
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Therapeutic potential of CDK11 in cancer
Clinical and Translational Medicine, 2023 Human cyclin‐dependent kinases (CDKs) direct the progression of the cell cycle and transcription. They are deregulated in tumours, and despite their involvement in the regulation of basic cellular processes, many CDKs are promising targets for cancer ...
Dalibor Blazek
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Transcriptome Analysis of the Cerebellum of Mice Fed a Manganese-Deficient Diet
Frontiers in Genetics, 2020 Manganese (Mn), primarily acquired through diet, is required for brain function and development. Epidemiological studies have found an association between both low and high levels of Mn and impaired neurodevelopment in children.
Young Ah Seo +4 more
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Pre-mRNA splicing-associated diseases and therapies
RNA Biology, 2023 Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome.
Sierra L. Love +3 more
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Viruses, 2022 The spliceosome is a massive ribonucleoprotein structure composed of five small nuclear ribonucleoprotein (snRNP) complexes that catalyze the removal of introns from pre-mature RNA during constitutive and alternative splicing. EFTUD2, PRPF8, and SNRNP200
Simon Boudreault +2 more
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