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From disease modelling to personalised therapy in patients with CEP290 mutations

Lookup NU author(s): Dr Elisa MolinariORCiD, Dr Shalabh Srivastava, Professor John SayerORCiD, Dr Simon RamsbottomORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Molinari E, Srivastava S, Sayer JA, Ramsbottom SA

Publication type: Article

Publication status: Published

Journal: F1000 Research

Year: 2017

Volume: 6

Online publication date: 12/05/2017

Acceptance date: 12/05/2017

Date deposited: 01/08/2017

ISSN (electronic): 2046-1402

Publisher: Faculty of 1000 Ltd.


DOI: 10.12688/f1000research.11553.1

PubMed id: 28690834


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Funder referenceFunder name
Kidney Research UK (PDF_003_20151124)