From disease modelling to personalised therapy in patients with CEP290 mutations

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  2. Dr Elisa Molinari
  3. Dr Shalabh Srivastava
  4. Professor John Sayer
  5. Dr Simon Ramsbottom
Author(s)Molinari E, Srivastava S, Sayer JA, Ramsbottom SA
Publication type Article
JournalF1000 Research
Year2017
Volume6
Issue
Pages
ISSN (electronic)2046-1402
Full text is available for this publication:
Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases. When transcripts containing these changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated decay. Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resulting not from degradation, but from changes in exon usage. We also comment on a landmark paper (Drivas et al. Sci Transl Med. 2015) where modelling this process of exon usage may be used to predict disease severity in CEP290 ciliopathies, and how understanding this process may potentially be used for therapeutic benefit in the future.
PublisherFaculty of 1000 Ltd.
URLhttps://doi.org/10.12688/f1000research.11553.1
DOI10.12688/f1000research.11553.1
PubMed id28690834
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