Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Genetic treatments of renal ciliopathies leading to cystic kidney disease would provide a real advance in current therapies. Mutations in CEP290 underlie a ciliopathy called Joubert syndrome (JBTS). Human disease phenotypes include cerebral, retinal, and renal disease, which typically progresses to...

Full description

Saved in:
Bibliographic Details
Published in:Proc Natl Acad Sci U S A
Main Authors: Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2018
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6298104/
https://ncbi.nlm.nih.gov/pubmed/30446612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1809432115
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items