Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Primary Ciliary Dyskinesia (PCD) most often arises from loss of the dynein motors that power ciliary beating. Here we show that PF22/DNAAF3, a previously uncharacterized protein, is essential for the preassembly of dyneins into complexes prior to their transport into cilia. We identified loss-of-fun...

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Detalles Bibliográficos
Autores principales: Mitchison, Hannah M., Schmidts, Miriam, Loges, Niki T., Freshour, Judy, Dritsoula, Athina, Hirst, Rob A., O’Callaghan, Christopher, Blau, Hannah, Dabbagh, Maha Al, Olbrich, Heike, Beales, Philip L., Yagi, Toshiki, Mussaffi, Huda, Chung, Eddie M.K., Omran, Heymut, Mitchell, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315610/
https://www.ncbi.nlm.nih.gov/pubmed/22387996
http://dx.doi.org/10.1038/ng.1106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315610/
https://www.ncbi.nlm.nih.gov/pubmed/22387996
http://dx.doi.org/10.1038/ng.1106

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