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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2018
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298104/
https://www.ncbi.nlm.nih.gov/pubmed/30446612
http://dx.doi.org/10.1073/pnas.1809432115

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