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4,156 results
  • RNA Splicing by the Spliceosome. [Journal Article]
    Annu Rev Biochem 2019Wilkinson ME, Charenton C, Nagai K
  • The spliceosome removes introns from messenger RNA precursors (pre-mRNA). Decades of biochemistry and genetics combined with recent structural studies of the spliceosome have produced a detailed view of the mechanism of splicing. In this review, we aim to make this mechanism understandable and provide several videos of the spliceosome in action to illustrate the intricate choreography of splicing…
  • Structural and functional modularity of the U2 snRNP in pre-mRNA splicing. [Journal Article]
    Crit Rev Biochem Mol Biol 2019; 54(5):443-465van der Feltz C, Hoskins AA
  • The U2 small nuclear ribonucleoprotein (snRNP) is an essential component of the spliceosome, the cellular machine responsible for removing introns from precursor mRNAs (pre-mRNAs) in all eukaryotes. U2 is an extraordinarily dynamic splicing factor and the most frequently mutated in cancers. Cryo-electron microscopy (cryo-EM) has transformed our structural and functional understanding of the role …
  • SMaRT for Therapeutic Purposes. [Journal Article]
    Methods Mol Biol 2020; 2079:219-232Riedmayr LM
  • Spliceosome-mediated mRNA trans-splicing (SMaRT) is a promising strategy for treatment of genetic diseases which cannot be targeted via classical therapy approaches. SMaRT utilizes an exogenous pre-mRNA trans-splicing molecule (PTM) to correct a diseased target pre-mRNA. This process relies on splicing of two separate pre-mRNA molecules in trans creating a mature chimeric mRNA molecule which cons…
  • RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation. [Journal Article]
    J Biol Rhythms 2019; :748730419887876Shakhmantsir I, Dooley SJ, … Sehgal A
  • Circadian clocks regulate multiple physiological processes in the eye, but their requirement for retinal health remains unclear. We previously showed that Drosophila homologs of spliceosome proteins implicated in human retinitis pigmentosa (RP), the most common genetically inherited cause of blindness, have a role in the brain circadian clock. In this study, we report circadian phenotypes in muri…
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