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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3315610/
https://ncbi.nlm.nih.gov/pubmed/22387996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1106
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