Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

Joubert syndrome (JBTS) is an incurable multisystem ciliopathy syndrome. The most commonly mutated gene in JBTS patients with a cerebello-retinal-renal phenotype is CEP290 (alias JBTS5). The encoded CEP290 protein localises to the proximal end of the primary cilium, in the transition zone, where it...

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Detalles Bibliográficos
Autores principales: Molinari, Elisa, Ramsbottom, Simon A., Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus M., Devlin, Laura A., White, Kathryn, Gunay-Aygun, Meral, Miles, Colin G., Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658666/
https://www.ncbi.nlm.nih.gov/pubmed/31346239
http://dx.doi.org/10.1038/s41598-019-47243-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658666/
https://www.ncbi.nlm.nih.gov/pubmed/31346239
http://dx.doi.org/10.1038/s41598-019-47243-z

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