An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

Eitemau Tebyg

• An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A
  gan: Dario Balestra, et al.
  Cyhoeddwyd: (2019-10-01)
• An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency
  gan: Balestra, Dario, et al.
  Cyhoeddwyd: (2020)
• Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant
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  Cyhoeddwyd: (2012)
• Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
  gan: Branchini, Alessio, et al.
  Cyhoeddwyd: (2017)
• Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants
  gan: Lombardi, Silvia, et al.
  Cyhoeddwyd: (2019)