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C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish

Mutations in C2orf71 are causative for autosomal recessive retinitis pigmentosa and occasionally cone-rod dystrophy. We have recently discovered that the protein encoded by this gene is important for modulation of the ciliary membrane through the recruitment of an actin assembly module, and have the...

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Detalles Bibliográficos
Autores principales: Corral-Serrano, Julio C., Messchaert, Muriël, Dona, Margo, Peters, Theo A., Kamminga, Leonie M., van Wijk, Erwin, Collin, Rob W. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018674/
https://www.ncbi.nlm.nih.gov/pubmed/29946172
http://dx.doi.org/10.1038/s41598-018-27928-7