Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy

We identified herein additional patients with rod-cone dystrophy (RCD) displaying mutations in KIZ, encoding the ciliary centrosomal protein kizuna and performed functional characterization of the respective protein in human fibroblasts and of its mouse ortholog PLK1S1 in the retina. Mutation screen...

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Bibliographic Details
Main Authors: Said El Shamieh, Cécile Méjécase, Matteo Bertelli, Angélique Terray, Christelle Michiels, Christel Condroyer, Stéphane Fouquet, Maxime Sadoun, Emmanuelle Clérin, Binqian Liu, Thierry Léveillard, Olivier Goureau, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Format: Article
Language:English
Published: MDPI AG 2017-10-01
Series:Genes
Subjects:
rod-cone dystrophy
mouse retina
KIZ
PLK1S1
functional characterization
Online Access:https://www.mdpi.com/2073-4425/8/10/277

Internet

https://www.mdpi.com/2073-4425/8/10/277

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