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

Por 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.
Publicado no Proc Natl Acad Sci U S A (2018)

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

Por 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.
Publicado no Sci Rep (2019)

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Por Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.
Publicado no Proc Natl Acad Sci U S A (2020)