Browsing Department of Informatics by Author "Yang, Chunbo"

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    • PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects 

      Atkinson, Robert; Georgiou, Maria; Yang, Chunbo; Szymanska, Katarzyna; Lahat, Albert; Vasconcelos, Elton J. R.; Ji, Yanlong; Moya Molina, Marina; Collin, Joseph; Queen, Rachel; Dorgau, Birthe; Watson, Avril; Kurzawa-Akanbi, Marzena; Laws, Ross; Saxena, Abhijit; Shyan Beh, Chia; Siachisumo, Chileleko; Görtler, Franziska Stilla Maria; Karwatka, Magdalena; Davey, Tracey; Inglehearn, Chris F.; McKibbin, Martin; Lührmann, Reinhard; Steel, David H.; Elliott, David J.; Armstrong, Lyle; Urlaub, Henning; Ali, Robin R.; Grellscheid, Sushma Nagaraja; Johnson, Colin A.; Mozaffari-Jovin, Sina; Lako, Majlinda (Journal article; Peer reviewed, 2024)
      The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity ...