Results 11 to 20 of about 375,320 (335)
Dysregulation of RNA Splicing in Tauopathies [PDF]
Cell Reports, 2019 Summary: Pathological aggregation of RNA binding proteins (RBPs) is associated with dysregulation of RNA splicing in PS19 P301S tau transgenic mice and in Alzheimer’s disease brain tissues. The dysregulated splicing particularly affects genes involved in
Daniel J. Apicco +8 more
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Science, 2015 A model predicts the impact of variations in the human genome on RNA splicing and disease [Also see Research Article by Xiong et al. ]
Guigó Serra, Roderic +1 more
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RNA helicases in splicing [PDF]
RNA Biology, 2013 In eukaryotic cells, introns are spliced from pre-mRNAs by the spliceosome. Both the composition and the structure of the spliceosome are highly dynamic, and eight DExD/H RNA helicases play essential roles in controlling conformational rearrangements. There is evidence that the various helicases are functionally and physically connected with each other
Jean D. Beggs, Olivier Cordin
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Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing
Nature Communications, 2022 Wiskott-Aldrich syndrome is caused by mutations in WASP, but the underlying mechanisms remain to be explored. Here the authors reveal that WASP deficiency results in aberrant RNA splicing, and that WASP regulates the transcription of splicing factor ...
Baolei Yuan +35 more
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PLoS Biology, 2023 Fragile X syndrome (FXS) is a neurodevelopmental disorder that is often modeled in Fmr1 knockout mice where the RNA-binding protein FMRP is absent. Here, we show that in Fmr1-deficient mice, RNA mis-splicing occurs in several brain regions and peripheral
Suna Jung +3 more
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A mechanism for RNA splicing. [PDF]
Proceedings of the National Academy of Sciences, 1980 The most abundant of the stable small nuclear RNAs of eukaryotic cells, U-1 small nuclear RNA, is exactly complementary to the consensus sequences at RNA splice sites. We propose that this RNA is the recognition component of the nuclear RNA splicing enzyme and forms base pairs with both ends of an intron so as to align them for cutting and splicing.
John A. Rogers, Randolph Wall
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Apparent non-canonical trans-splicing is generated by reverse transcriptase in vitro [PDF]
, 2010 Trans-splicing, the in vivo joining of two RNA molecules, is well characterized in several groups of simple organisms but was long thought absent from fungi, plants and mammals.
David Tollervey +26 more
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The incredible complexity of RNA splicing [PDF]
Genome Biology, 2016 Alternative splice isoforms are common and important and have been shown to impact many human diseases. A new study by Nellore et al. offers a comprehensive study of splice junctions in humans by re-analyzing over 21,500 public human RNA sequencing datasets.
Christelle Robert, Mick Watson
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Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]
, 2015 Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold +16 more
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Cis- and trans-regulations of pre-mRNA splicing by RNA editing enzymes influence cancer development
Nature Communications, 2020 RNA editing and RNA splicing are involved in tumorigenesis. Here the authors report crosstalk between RNA editing and splicing by identifying ADAR1/2-dependent splicing events in esophageal squamous carcinoma cells.
Sze Jing Tang +13 more
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